FISH

SMALL SUPERNUMERARY MARKER CHROMOSOMES

- sSMC 15 -

           References

In general 70% of sSMC carriers are clinically normal. The figures here
are based on the bias, that mainly clinically aberrant cases are reported in literature!

UPD (uniparental disomy) cases:           UPD 15   maternal   paternal   unclear


PATIENTINFORMATION for sSMC(15)

the probably non-dosage sensitive pericentric region of chromosome 15

 


SCHEMATIC CYTOGENETIC DEPICTION                    
  sSMC-15DISCLAIMER

 


 

SCHEMATIC MOLECULARGENETIC DEPICTION  

 

acc. to UCSC Genome Browser on Human Mar. 2006 assembly [UCSC hg18, 2006]
and available BAC-data/ array-data from cases marked *** mentioned below [MB]

 [p-tel ---   centromere 18.40]   uncritical region 21.18 --- 22.80 critical region

Below adapted for UCSC hg19, 2009

 [p-tel ---   centromere 20.70]   uncritical region 23.70 --- 25.25 critical region

 DISCLAIMER

 


 Clinical symptoms of centromere-near proximal imbalances

 

chromosomal region

15pter to 15q12

15pter to 15q14

symptoms

autism

0 % 43 %

dysmorphic face

18 % 6 %

growth retardation

3 % 3 %

heart defect

1 % 1 %

hypermelanosis Ito

0 % 3 %

hypotonia

7 % 5 %

macrocephaly

1 % 0 %

mental retardation

95 % 100 %

microcephaly

0 % 2 %

seizures

7 % 38 %
number of cases 74 151

 

 


References

Cases without clinical findings (O)

 

 

 


References

Cases with clinical findings (W)

 

 


References

Cases with unclear clinical correlation (U)

 

 

                     
  case no.  gender/ age at diagnosis studied 
material
de novo/ 
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  15-U-
1
female/
prenatal
PBL n.a. 47,XX,+mar[20] der(15)(p13q?13::q?
13 or q?
q? or q?13)
M-FISH; cenM n.a. {3} case 8
{4} case 8
 
  15-U-
2
female/
at birth
PBL maternal 47,XX,-14,+t(14;21)(p11;p11),
+mar[?]
inv dup(15)(q11.2 or q12)  radioactive ISH with pML34 Down-Syndrome {8; 9; 10}   
  15-U-
2a
male/
1m
PBL de novo 48,XY,+21,+mar[22] inv dup(15)(q10)  cenM;
subcenM
Down-Syndrome {1} case 23  
  15-U-
3
female/
4m
PBL de novo 47,XX,dup(15)(q11q13), +mar[100] inv dup(15)(q11~12)*  wcp15; various YACS from 15q11 to 15q13 see below {109}  
birth weight 3540g (<90. centile), spasmus nutans, developmental delay, at 4y weight >97. centile, height normal, HC 75. centile
  15-U-
4
female/
prenatal
AF n.a. 47,XX,+mar[20] r(15)(::q10q1?4::) .ish(UBE3A+;SNRPN+)  M-FISH;
acro-cenM;
subcenM;
MCB
see below {0} provided by Dr. A. Dufke, Tübingen, Germany  
Amniocentesis due to advanced  maternal age; no ultrasound abnormalities, pregnancy terminated; presence of marker confirmed in fetal tissue
  15-U-
5
male/
prenatal
AF de novo 47,XY,+mar[30%]/
46,XY[70%]
r(15)(::p11.1q11.1:
:q11.2
q13:
:q13
q11.2:
:q11.1
p11.1::)
.ish(D15S10-;SNRPN++)
 cenM;
subcenM;
SNRPN; D15S10; UPD-test
Amniocentesis due to advanced  maternal age; no ultrasound abnormalities {0}provided by Dr. H. Heilbronner, (Stuttgart, Germany)  
  15-U-
6
male/
prenatal
AF de novo 47,XY,+mar[100%] dic(15;22)(15q11.1;22q22.1) cep 14/22; cep 15; characterization of #22 by p-arm polymorphism analysis see below {30} case 1; {335}
 
Amniocentesis due to advanced  maternal age; no ultrasound abnormalities; pregnancy terminated; autopsy revealed a normal fetus
  15-U-
8-1 to
8-3
male/ female 2x /
prenatal
AF de novo 47,+mar[100%] inv dup(15)(q11) all available centromeric probes see below {35} cases 19-21  
Amniocentesis due to advanced  maternal age; no ultrasound abnormalities; pregnancy terminated; no abnormalities in autopsy
  15-U-
8-4
female/
7y
PBL de novo 47,XX,+mar[56%]
46,XY[44%]
inv dup(15)(q11.1)  centromeric probes; subcenM see below {0} 
provided by Dr. M. Zankl, Homburg, Germany
 
normal size, weight and facial appearance at 7y; logopaedia since 3 y for some pronunciation problems, at 7y ataxia, no mental retardation
  15-U-
9
female/
prenatal
AF de novo 47,XX,+mar[100%] inv dup(15)(q12 or 13) all available centromeric probes; wcp 15 see below {35} case 22  
Amniocentesis due to advanced  maternal age; no ultrasound abnormalities; pregnancy terminated; no abnormalities in autopsy
  15-U-
10
male/
prenatal
AF de novo 47,XY,+mar[100%] der(15)t(Y;15)(q12;q22) all available centromeric probes; wcp 15 see below {36} case 8; {335}
 
Amniocentesis due to advanced  maternal age; no ultrasound abnormalities; pregnancy terminated; no autopsy
  15-U-
11
male/
prenatal
AF de novo 47,XY,+r[10]/
46,XY[24]
min(15) .ish(D15Z1+;wcp15+)  cep 15;
SKY;
SNRPN; D15S10
see below {38}  
Amniocentesis due to advanced  maternal age; no ultrasound abnormalities; pregnancy terminated
  15-U-
12
female/
8m
PBL de novo 47,XX,der(1)t(1;15)(pter;q1?2),
+inv dup(15)(q11)[60%]/
46,XX,der(1)t(1;15) (pter;q1?2)[40%]
n.a.  n.a. see below {66}  
hypotonia, mild plagiocephaly, low-set ears, bilateral clinodactyly of 5. finger, developmentally and mentally retarded
  15-U-
13
female/
6m
PBL de novo 47,XX,dup(15)(q11.2q12), +inv dup(15)(q11.1)[100] n.a.  n.a. see below {131}  
birth weight 3700g , at 6m hypotonia, motor delay, developmental delay; dysmorphic face 
  15-U-
14
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup (15)(q11.1)  cep probes and subcenM-FISH pregnancy loss  {0} provided by Jason Anderson, (Brisbane, Australia  
  15-U-
15
female/
prenatal
AF maternal balanced t(15;16) 47,XX,+mar[100%] der(15)t(15;16)(q13;p13.2)  wcp probes see below  {146; 335}  
6mm nuchal translucency in week 13+; at week 23: hydrops fetalis, micrognathia, distal limb abnormalities, two-vessel umbilical cord, Polyhydramnion; TOP in week 27; autopsy also detected flat face, hypertelorism, incomplete separation of maxillae and mandible, ascites.  
  15-U-
16 to 
18
female/
n.a.
n.a. 1 de novo
2 n.a.
47,XX,+mar [100%] 2x
48,XX,+mar[?]/47,XX,+mar[?] 1x
inv dup (15)(q11.2)
(no SNRPN)
 cep 15;
SNRPN
n.a. {148} cases 13, 16, 18  
  15-U-
19
female/
n.a.
n.a. n.a. 48,XX,+?rx2[?]/
47,XX,+?r[?]/
46,XX
?r(15)
(no SNRPN)
 cep 15;
SNRPN
n.a. {148} case 19  
  15-U-
20
female/
n.a.
n.a. n.a. 47,XX,+mar[100%] min(15)(pterq12:)*
(with 1 SNRPN)
 cep 15;
SNRPN
n.a. {148} case 20  
  15-U-
21
female/
prenatal
n.a. n.a. 47,XX,+mar[mos] inv dup (15)  SKY termination of pregnancy {153}  
  15-U-
22
n.a./
prenatal
n.a. de novo 47,+mar[100%] inv dup (15)  centromeric probes termination of pregnancy {157} case 1  
  15-U-
24
female/
prenatal
(EKF-
cellbank)
AF de novo 47,XX,+mar[35%]/
46,XX[65%]
min(15)(:p11.1q11.1:)  cenM, acro-cenM, subcenM; UPD-test see below {0} provided by Dr. Mehnert, Neu-Ulm, Germany  
Advanced maternal age and antibiotics therapy in month two of pregnancy due to Lyme disease; no ultrasound abnormalities; child born; normal apart from skin abnormality described as marbling of right upper body including arms plus left leg 
  15-U-
25
see mult 2-17   {0} provided by Dr. A Dufke, Tübingen, Germany  
  15-U-
26
male/
prenatal
AF de novo 47,XY,+mar[54]/
46,XY[8]
min(15)(pterq12:) ,
p-arm very short
array: 0.00-30.61 MB
min(15)(pter
q13.2:)
midi; array-CGH advanced maternal age, no further info available {0} provided by Dr. Kerber, Hamburg, Germany  
  15-U-
27
male/
prenatal
AF de novo 47,XY,+mar[?%]/
46,XY[?%]
inv dup(15)(q10) midi; array-CGH no data available on embryo, studied due to high risk due to AFP {256} case 15  
  15-U-
28
female/
prenatal
AF de novo 47,XX,+mar[~60%]/
46,XX[~40%%]
inv dup(15)(:p11.2q11.1:
:q11.1
p11.2:)[6]/
inv dup(15)(:p11.1
q11.1:
:q11.1
p11.1:)[1]/
min(15)(:p11.2
q11.1:)[1]
centromeric probes, subcenM no data available {0}provided by Carme Fuster, Barcelona, Spain  
  15-U-
29
female/
prenatal
AF de novo 47,XX,+mar[100%] inv dup(15)(q11.2) centromeric probes, subcenM no data available {0} provided by Dr. Joris Vermeesch, Leuven, Belgium  
  15-U-
30
n.a./
prenatal
AF de novo 47,+mar[?%] inv dup(15) n.a. no data available {202}1 case  
  15-U-
31
female/
prenatal
AF n.a. 47,XX,+mar[61%]/
46,XX[39%]
min(15)(pterq11.1:) centromeric probes, subcenM, SNRPN advanced maternal age, no further info available {0} provided by Drs. Schulze/Schmidt,
Hannover, Germany
 
  15-U-
32 to
43
male (6)/ female (6)/
prenatal or postnatal
AF/ PBL de novo 47,+mar[100%] mar(15) wcp 15 abnormal or normal, no clear details given {209} cases 2-9; 11-13; 15  
  15-U-
44 to
55
male (2)/ female (6)/
prenatal
AF de novo (6x); n.a. (2x) 47,+mar[100%] mar(15) wcp 15 SNRPN; UPD-test (in 6 cases) prenatally diagnosed {210} cases 7, 9, 11-13, 15, 17-18  
  15-U-
56 to
62
male (3)/ female (4)/
prenatal
AF de novo 47,+mar[100%] inv dup(15) centromeric probes Amniocentesis due to advanced  maternal age; TOP {12} cases 13,19, 21,25,28,31; {15} cases 44 ,-,-,-,47,46,48  
  15-U-
63
male/
prenatal
AF de novo 47,XY,+mar[100%] inv dup(15)(q11.2) centromeric probes; probe pHSR Amniocentesis due to advanced  maternal age; TOP {16} case 1  
  15-U-
64
male/
prenatal
AF de novo 47,XY,+mar[75%]/
46,XY[25%]
min(15)* centromeric probes TOP; at autopsy fetus with low set ears {25} case 8  
  15-U-
65 to
66
female/
prenatal
AF de novo 47,XX,+mar[75%]/
46,XX[25%]
min(15) and inv dup(15) centromeric probes TOP; no info {26} cases 8, 10  
  15-U-
67
female/
prenatal
AF de novo 47,XX,+mar[100%] min(15)* centromeric probes Amniocentesis due to advanced  maternal age; TOP; no info {32; 33; 34} cases 1  
  15-U-
68 to
69
female/
prenatal
AF de novo 47,XX,+mar[100%] inv dup(15)(q11.2) centromeric probes TOP; no abnormalities in autopsy {36} cases 5-6  
  15-U-
70 to
74
male (2)/ female (3)/
prenatal
AF de novo 47,+mar[100%] inv dup(15)(q11.1) centromeric probes TOP; no abnormalities in autopsy {15} cases 44-48  
  15-U-
75
n.a./
prenatal
AF de novo 47,+mar[?100%] inv dup(15) centromeric probes TOP; no info {48} 1 case  
  15-U-
76
female/
prenatal
AF de novo 47,XX,+mar[?100%] inv dup(15) centromeric probes  no info {51} case DL9  
  15-U-
77
male/
prenatal
AF, lung, skin, tendon, gonad, blood de novo 48,XY,+2mar[79-95%]/
46,XY[remainder]
inv dup(15) centromeric probes TOP; no abnormalities in autopsy {65} case 2  
  15-U-
78 to
80
female (2x)/1x n.a./
prenatal
AF n.a. 47,+mar[?100%] inv dup(15) centromeric probes TOP and or no info available {71} cases      9/11/22
{102} cases    16/11/--
 
  15-U-
81 to
83
 n.a./
n.a.
n.a. n.a. 47,+mar[?100%] inv dup(15) centromeric probes no info available {84} cases 1-3  
  15-U-
84
 n.a./
n.a.
n.a. n.a. 47,+mar[?100%] mar(15) centromeric probes no info available {125} case HS38  
  15-U-
85
 n.a./
n.a.
n.a. n.a. 47,+mar[?100%] mar(15) centromeric probes no info available {130}  
  15-U-
86
male/
prenatal
AF n.a. 48,XY,+mar,+mar[100%] inv dup(15)(q10)x2 cenM, subcenM; UPD-test no info available {0} provided by Dr. Sanding, Leipzig, Germany  
  15-U-
87
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) cenM, subcenM no info available {0} provided by Dr. M. Manolakos, Athens, Greece  
  15-U-
88 to 132
n.a./
n.a.
n.a. n.a. 47,+mar[?%] mar(15) n.a. no info available {212} 45 cases  
  15-U-
133
male/
11y
PBL de novo 47,XY,+mar[100%] inv dup(15)(q12)
deletion in
Williams Beuren syndrome critical region on 7q11.2
centromeric probe;
Williams Beuren syndrome probe
see below {218}  
Williams Beuren syndrome; at birth: talus valgus pronate feet, gastroesophagial reflux, hypotonia, feeding problems; later: systemic hypertension, weight and height below 3rd centile, psychomotor delay, supravalvular and aortic stenosis,
  15-U-
134
male/
prenatal
AF de novo 47,XY,+mar[15]/
46,XY[15]
inv dup(15)(q12) centromeric probes sSMC detected due to amniocentesis in connection with advanced maternal age;  no further info available {227}  
  15-U-
135 to
136
n.a./
n.a.
n.a. n.a. 47,+mar[?%] mar(15) centromeric probes no info available {228}2 cases  
  15-U-
137 to
142
n.a./
n.a.
n.a. n.a. 47,+mar[?%] inv dup(15) centromeric probes; BACs no info available {233}6 cases  
  15-U-
143 to
150
n.a./
prenatal
AF n.a. 47,+mar[?%] mar(15) SKY no info available {236} 8 new cases  
   15-U-
151
n.a./
n.a
n.a. n.a. 47,+mar[?%] mar(15) midi no info available {245} 1 case  
   15-U-
152
female/
prenatal
AF de novo 47,XX,+mar[10]/
46,XX[5]
min(15)(pterq11.2:)
0.00-20.94 MB
midi; cep probes; array-CGH advanced maternal age; no info available {0}  
   15-U-
153
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) cenM; subcenM advanced maternal age; no info available {0} provided by  genetikaimd, Belgrade, Serbia  
   15-U-
154 to
159
n.a./
n.a.
n.a. n.a. 47,+mar[?%] mar(15) wcp probes no info available {258} 6 cases  
   15-U-
160
n.a./
n.a.
n.a. n.a. 47,+mar[?%] mar(15;16) wcp probes no info available {258} 1 case; {335}
 
   15-U-
161
female/
2y
PBL n.a. 47,XX,+mar[16]/
46,XX[14]
inv dup(13;15)(p11.2p11.2) cep probes moderate psychomotor retardation, slight dysmorphic features. {259} first case; {335}
 
   15-U-
162
n.a./
prenatal
AF n.a. 47,+mar[?%] inv dup(15)(q1?) n.a. advanced maternal age; no info available {260}  
   15-U-
163
female/
prenatal
AF de novo 47,XX,+mar[100%] inv dup(15)(q14) cenM, subcenM, SNRPN advanced maternal age, twin pregnancy; selective TOP of twin with sSMC {0} provided by  Dr. Demuth, Erfurt, Germany  
   15-U-
164
male/
newborn
PBL de novo 48,XY,+inv dup(15), +18[100%] n.a. n.a. trisomy 18 pheontype {265}  
   15-U-
165
n.a./
prenatal
AF de novo 47,+mar[100%] inv dup(15) cep 15, wcp 15 advanced maternal age,  TOP {270} case 1  
   15-U-
166
n.a./
prenatal
AF n.a. 47,+mar[?%] mar(15) n.a. n.a. {274} 1 case  
   15-U-
167
female/
prenatal
PBL n.a. 47,XX,+mar[27]/
46,XX[3]
inv dup(15)(q11.2)
Array: 0.00-21.38 MB
cep probes; subcenM; array-CGH; UPD-test advanced maternal age - no follow up available {0} provided by J Melo, Coimbra, Portugal  
   15-U-
168
male/
prenatal
AF n.a. 48,XY,+marx2[3]/
47,XY,+mar(24)/
46,XY[3]
inv dup(15)(q11.1) acrocenM, subcenM born after unsuccessful fetocide; mental and growth retardation, asphyxia perinatal and with no minor stigmata. {0} provided by  gentikaimd, Serbia  
   15-U-
169
female/
prenatal
AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) cenM, subcenM; UPD-test advanced maternal age - no follow up available {0} provided by  Dr. Huhle, Wetzlar, Germany  
   15-U-
170
male/
n.a.
n.a. n.a. 47,XY,+mar[100%] inv dup(15)(q11.2)
Array: no euchromatin detected
cep probes, subcenM, MCB; aCGH
 
n.a. {0} provided by J Melo, Coimbra, Portugal  
   15-U-
171
female/
prenatal
AF n.a. 47,XX,+mar[100%] r(15)(::p1?2q11.1::) cep probes, subcenM TOP - no info available {0} provided by Dr. C. Fuster, Spain  
   15-U-
172
female/
prenatal
AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) cep probes, subcenM n.a. {0} provided by J Melo, Coimbra, Portugal  
   15-U-
173
n.a./
prenatal
AF n.a. 47,+mar[?%] inv dup(15) n.a. n.a. {283}  
   15-U-
174 to
188
n.a./
prenatal
AF de novo 47,+mar[?%] inv dup(15) n.a.; UPD-test n.a. {290} 15 cases  
   15-U-
189
female/
prenatal
AF maternal (bal. transloc.) 47,XX,+mar[100%] der(15)t(9;15)(p12;q14) MLPA: wcps ascites, advanced maternal age {300} case 14; {335}
 
   15-U-
190
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(15)(q11) cep probes, MLPA: wcps advanced maternal age {300} case 15  
   15-U-
191
female/
prenatal
AF n.a. 47,XX,+mar[54]/
46,XX[5]
inv dup(15)(q11.2) cenM, subcenM; LSI UBE3A; UPD-test advanced maternal age {0} provided by Dr. Meins, Hannover, Germany  
   15-U-
192
male/
prenatal
AF n.a. 47,XY,+mar[21]/
46,XY[54]
min(15)(pterq11.1:) cenM, subcenM; LSI UBE3A short femur in sonography, no follow up available {0} provided by Dr. Huzhle, Leipzig, Germany  
   15-U-
193
female/
prenatal
AF n.a. 47,XX,+mar[21]/
46,XX[8]
inv dup(15)(q11.1) acrocenM, subcenM; advanced maternal age - no follow up available {0} provided by Dr. Kozlowski, Düsseldorf Germany  
   15-U-
194
male/
prenatal
AF n.a. 47,XY,+mar[31]/
46,XY[19]
min(15)(pterq11.1:) acrocenM, subcenM; UPD-test advanced maternal age - no follow up available {0} provided by Dr. Snezana, Belgrade, Serbia  
   15-U-
195
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM; advanced maternal age - no follow up available {0} provided by Dr. Zivi Borochowitz; Israel  
   15-U-
196
female/
prenatal
AF n.a. 47,XX,+mar[50%]/
46,XX[50%]
inv dup(15)(q11.1) acrocenM, subcenM; advanced maternal age - no follow up available {0} provided by Dr. Kozlowski, Düsseldorf Germany  
   15-U-
197
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.2) acrocenM, subcenM; advanced maternal age - no follow up available {0} provided by Dr. S. Ourru, Cagliari, Italy  
   15-U-
198
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.2) acrocenM, subcenM; advanced maternal age - no follow up available {0} provided by Dr. S. Ourru, Cagliari, Italy  
   15-U-
199
male/
prenatal
AF n.a. 47,XY,+mar[11]/
46,XY[5]
inv dup(15)(q11.1) ceps; subcenM; advanced maternal age - no follow up available {0} provided by Dr. Beudt, Frankfurt, Germany  
   15-U-
200
male/
prenatal
AF n.a. 47,XY,+mar[2]/
46,XY[23]
min(15)(pterq11.1:) cenM, subcenM advanced maternal age - no follow up available {0} provided by Dr. Heilbronner, Stuttgart, Germany  
   15-U-
201
female/
prenatal
AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM advanced maternal age - no follow up available {0} provided by Dr. D. Katarska Slovakia  
   15-U-
202
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM advanced maternal age - no follow up available {0} provided by Dr. M.B. Petersen, Athens, Greece  
  15-U-
202a
n.a./
prenatal
AF n.a. 47,XN,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM n.a. {0} provided by Mikrogen, Turkey
 
 
   15-U-
202b
female/
6y
PBL n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) array-CGH seizures, hypotonia, DD, no speach {309} case 2  
  15-U-
202c
male/
10y
PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM abnormal {0} provided by Dr. M. Mulhatino, Rio de Janeiro, Brasil
 
 
   15-U-
203
female/
3y
PBL n.a.  47,XX,+mar[?100%] inv dup(15) SKY n.a. {311} case F0642559  
   15-U-
204
female/
6y
PBL n.a.  47,XY,+mar[?100%] inv dup(15) SKY Pervasive developmental disorder {311} case F0658799  
   15-U-
205
male/
45y
PBL n.a.  47,XY,+mar[100%] der(15)t(15;18)(q11.1;p11.1~11.21)
aCGH: chr. 15: 18,362,555-20,042,737 MB and chr. 18: 0,108,760-16,783,908
midi, rev FISH severe osteoporosis and feminine body, fertile {335}  
  15-U-
206
male/
newborn
PBL mat 47,XY,+mar[100%] der(15)t(15;16)(q13;q13) SKY microcephaly, dysmporphic features, tetralogy fallot, child dies with 11 months {312; 335}  
  15-U-
207
female/
6y
PBL mat; grandpat 47,XX,+mar[100%] der(15)t(15;16)(q13;p13.2) wcp FISH and aCGH dysmporphic features, micorsomia, hearing and speech impairment {313; 335}  
  15-U-
208
male/
postnatal
PBL de novo 47,XY,+mar[100%] der(15)t(8;15)(p23.2;q21.3)
aCGH: chr. 15: 18,432,558-42,028,443 MB and chr. 18:  0,209,683-9,757,798 MB
midi, rev FISH, subcenM mental retardation {335}  
   15-U-
209
male/
prenatal
AF n.a. 47,XY,+mar[7]/
46,XY[82]
inv dup(15)(q11.1) acrocenM, subcenM n.a. {0} provided by Dr. Kunz, Berlin, Germany  
 

15-U-
210

female/
prenatal
AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.2) acrocenM, subcenM n.a. {0} provided by Dr. Hickmann, Düsseldorf, Germany
 
 

15-U-
211

 male/
prenatal
AF  n.a. 47,XY,+mar[15%]/
46,XY[85%]
inv dup(15)(q11.1) acrocenM, subcenM n.a. {0} provided by Dr. Gerad, Israel  
 

15-U-
212

 male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM n.a. {0} provided by Dr. Morlot, Hannover, Germany  
 

15-U-
213

 male/
prenatal
 AF n.a. 47,XY,+mar[50%]/
46,XY[50%]
inv dup(15)(q11.2) acrocenM, subcenM n.a. {0} provided by Dr. Petersen, Athens, Greece  
 

15-U-
214

male/
prenatal
AF mat
balanced t(15;17)
47,XY,+mar[100] der(15)t(15;17)(q12;q25.3) subtel 17qter; cep 15 sonographic abnormal {335}
 
                     

 

 


References

Cases with an inv dup(15) or min(15) and autism -
without listing extensive clinical details on the cases in this summary (Caw)

 

 

         
  case no.  sSMC shape reference  
  15-Caw-1 1x inv dup {75}  
  15-Caw-2 1x "inv dup" {76} case J.C.  
  15-Caw-3 1x inv dup {78; 79} (with Angelman syndrome)  
  15-Caw-4 to 15-Caw-31 28x inv dup {80} 28 cases  
  15-Caw-32 1x inv dup {81}  
  15-Caw-33 to 15-Caw-34 2x inv dup {82} case JB =  {101} case 1 =   {102} case 4; 
{82} case MB = {102} case 19
 
  15-Caw-35 to 15-Caw-36 1x inv dup, 1x min {83} cases a and b  
  15-Caw-37 1x inv dup {85}  
  15-Caw-39 1x inv dup {89}  
  15-Caw-40 to 15-Caw-45 6x inv dup {90} cases A-F; {120} cases B; C;  D; F   
  15-Caw-46 1x inv dup {91}  
  15-Caw-47 1x inv dup {94}  
  15-Caw-48 1x inv dup (?) {105} case 8  
  15-Caw-49 1x inv dup {71} case 26  
  15-Caw-50 1x inv dup {154}  
  15-Caw-51 1x inv dup {156}  
  15-Caw-52 1x min (?) {169}case B  
  15-Caw-53 to 15-Caw-54 3x inv dup

{196} 2 cases

 
  15-Caw-55
(EKF-
cellbank)

1x inv dup

{0} 1 case provided by Dr. H. Nelle, Jena, Germany
no UPD 15. mar of maternal origin

 
  15-Caw-56 1x inv dup

{220}

 
  15-Caw-57 1x inv dup

{295}

 
  15-Caw-58 1x inv dup

{0} 1 case provided by Dr. Petersen, Athens, Greece

 
  15-Caw-58  1x inv dup {309} case 1  
         

 

                     
  case no.  gender/ age at diagnosis studied 
material
de novo/ 
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  15-Caw-
special
case 1
male/
1y
PBL de novo 47,XY,+mar[100%?] inv dup(15)(q11.2)
+
Necdin, Makorin, MAGEL2 and NECDIN encoding region and BACs for the SNURF SNRPN-UBE3A region duplicated on one 'normal' chromosome 15
centromeric probes;
SNRPN and other probes
see below {158}  

behavioural problems at age 29 months. at 36 months, stereotypical play and using fewer than 6 words. At 48 months he met ADI/ADOS criteria for autistic disorder. Overall IQ (Stanford Binet) was 92, with relative strength in abstract/visual and quantitative reasoning, and weakness in verbal reasoning. The child is somewhat obese and has cupped pinna but is not otherwise noted to be dysmorphic.

  15-Caw-
special
case 2
male/
6y
PBL de novo 47,XY,+mar[100%?] inv dup(15)(q14) centromeric probes;
D15Z1; SNRPN; D15S10; PML
developmental delay, microcephaly, autistic behaviour {0} provided by A. Dufke,
Göttingen, Germany
 
  15-Caw-
special
case 3
male/
8y
PBL de novo 47,XY,+mar[100%?] inv dup(15)(q13.1)
array: 0.00-25.93 MB
cenM, subcenM, midi; UPD-test
 
at 8 years: Severe psychomotor development delay; speech problems, no control of sphincters, growth delay, autism and hyper-reactivity, frontal lobe epilepsy {0} provided by Joana Melo, Coimbra, Portugal  
  15-Caw-
special
case 4
female/
5y
PBL maternal 47,XX,+mar[100%] inv dup(15)(q13.1)
ar
ray: 0.00-25.93 MB
array mother: 0.00-25.93 MB
cenM, subcenM; array-CGH see below {0} provided by Dr. I Marques Carreiras and J. Melo, Coimbra, Portugal  

Mental retardation; autism; hypotonia; speech problems; Mother at 27 years: Low IQ; Learning disabilities

                     

 


References

Cases with an inv dup(15) and seizures -
without listing extensive clinical details on the cases in this summary (Csw)

 

         
  case no.  sSMC shape reference  
  15-Csw-1 to 15-Csw-5 abnormal phenotype; 5x inv dup - q13 involved

{187} 5 cases

 
  15-Csw-6 to 15-Csw-9 abnormal phenotype; 4x inv dup - q13 involved

{44} 4 cases

 
  15-Csw-10 abnormal phenotype; 1x inv dup

{135}

 
  15-Csw-11 to 15-Csw-15 abnormal phenotype; 7x inv dup

{189} 7 cases

 
  15-Csw-16 abnormal phenotype; inv dup - q13 involved

{190}

 
  15-Csw-17 to 15-Csw-23 abnormal phenotype; 7x inv dup - q13 involved

{63} cases 1, 3, 4, 5, 6, 7, 8

 
  15-Csw-24 to 15-Csw-25 abnormal phenotype; 2x inv dup

{191} cases 3 and 7

 
  15-Csw-26 abnormal phenotype; inv dup - q13 involved

{188} case 1449

 
  15-Csw-27 abnormal phenotype; inv dup - q13 involved

{192}

 
  15-Csw-28 to 15-Csw-29 abnormal phenotype; 2x inv dup - q13 involved

{193} 2 cases

 
  15-Csw-30 abnormal phenotype; inv dup

{194}

 
  15-Csw-31 abnormal phenotype; inv dup

{195}

 
  15-Csw-32 to 15-Csw-34 abnormal phenotype; 3x inv dup

{196} 3 cases

 
  15-Csw-35 abnormal phenotype; inv dup

{119}

 
  15-Csw-36 abnormal phenotype; inv dup

{1} case 22, {2}

 
  15-Csw-37 abnormal phenotype; inv dup

{14}  case 2

 
  15-Csw-38 to 15-Csw-39 abnormal phenotype; 2x inv dup

{123} case C, E

 
  15-Csw-40 abnormal phenotype; inv dup

{151}

 
  15-Csw-41 abnormal phenotype; inv dup

{113} 

 
  15-Csw-42 abnormal phenotype; inv dup

{305} 

 
  15-Csw-43 abnormal phenotype; inv dup

{327}

 
         

 


References
 

Cases with an sSMC and Prader Willi Syndrome (P)

 

                     
  case no.  gender/ age at diagnosis studied 
material
de novo/ 
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  15-P-
1
male/
5y
PBL de novo 47,XY,+r(?)[70%]/
46,XY[30%]
r(15); 
no PWS-region on ring and del of PWS on one normal chr. 15;
no UPD 15
different FISH probes: (cep 15; wcp 15); UPD-test Prader Willi syndrome {17} case 1  
  15-P-
2
female/
9m
PBL de novo 47,XX,+r(?)[50%]/
46,XX[50%]
mar(X)
mat UPD 15
different FISH probes:
(wcp X); UPD-test
Prader Willi syndrome {17} case 2; {330}
 
 
  15-P-
3
female/
postnatal
PBL n.a. 47,XX,+mar[25%]/
46,XX[75%]
mar(15).ish (15Z1+,pTRA-25+,D15S18-)
mat  UPD 15
heterodisomy
different FISH probes:
(wcp 15, cep 15 - see left field); UPD-test
Prader Willi syndrome {257} 1 case
{330}
 
  15-P-
4
male/ postnatal PBL n.a. 47,XY,+mar[25]/
46,XY[5]
mar(15).ish (15Z1+,SNRPN-)
mat  UPD 15
SNRPN, UPD-test Prader Willi syndrome {316}
case 3
{330}
 
 
  15-P-
5
female/ postnatal PBL n.a. 47,XX,+mar[26]/
46,XX[4]
mar(15).ish (15Z1+,SNRPN-)
mat  UPD 15
SNRPN, UPD-test Prader Willi syndrome {316}
case 4
{330}
 
  15-P-
4
n.a./
postnatal
PBL n.a. 47,+mar[8%]/
46[92%]
inv dup(15)
maternal UPD 15
molecular genetics; UPD-test Prader Willi syndrome {294}   
   15-P-
5
male/
6y
PBL de novo 47,XY,+mar[46]/
46,XY[54]
inv dup(22)(q11.1)
maternal UPD 15
cep probes; UPD-test PWS {304}  
  15-P-
q1?/
1-1
female/
35y
PBL de novo 47,XX,+min(15)(q1?)[60%]/
46,XX[40%]*
n.a. n.a. Prader Willi syndrome {68}   
  15-P-
q11/
1-1
female/
n.a.
PBL de novo 47,XX,+inv dup(15)(q11)[80%]/
46,XX[20%]
n.a. n.a. Prader Willi syndrome {18}  
  15-P-
q11/
1-2
male/
12y
PBL de novo 47,XY,+inv dup(15)(q11)[70%]/
46,XY[30%]
n.a.
maternal UPD 15
n.a.; UPD-test Prader Willi syndrome {19} case 2
{330}
 
  15-P-
q11/
1-3
female/
3y
PBL de novo 47,XX,+inv dup(15)(q11)[100%] n.a. n.a.; Prader Willi syndrome {23}  
  15-P-
q11/
1-4
male/
26y
PBL de novo 47,XY,+inv dup(15)(q11)[100]* inv dup (15)(q11)
maternal UPD 15
n.a.; UPD-test Prader Willi syndrome {45; 46}  
  15-P-
q11/
1-5
male/
33y
PBL de novo 47,XY,+inv dup(15)(q11)[24]/
46,XY[29]
inv dup (15)(q11)
maternal UPD 15
centromeric probe 15 and 6 single copy probes from 15q11 to 15q13; UPD-test Prader Willi syndrome {47} case WJK303
{330}
 
  15-P-
q11/
1-6
male/
17y
PBL de novo 47,XY,+inv dup(15)(q11~q12) n.a. n.a. Prader Willi syndrome {64}   
  15-P-
q11/
1-7
female/
18y
PBL de novo 47,XX,+inv dup(15)(q11~q12)[41]/46,XX[59] n.a. n.a. Prader Willi syndrome {140}   
  15-P-
q11/
1-8
female/
17y
PBL de novo 47,XX,+inv dup(15)(q11)*[100%] n.a. n.a. Prader Willi syndrome {59}   
  15-P-
q11/
1-9
male/
16m
PBL de novo 47,XY,+inv dup(15)(q11)[100%] n.a. n.a. Prader Willi syndrome {72} case 9   
  15-P-
q11/
1-10
male/
2y8m
PBL de novo 47,XY,+inv dup(15)(q11)[30]/
46,XY[10]
n.a. n.a. Prader Willi syndrome {117} case 1   
  15-P-
q11/
1-11
male/
8y
PBL de novo 47,XY,+inv dup(15)(q11)[8]/
46,XY[7]
n.a. n.a. Prader Willi syndrome {117} case 2   
  15-P-
q11/
1-12
male/
2y
PBL de novo 47,XY,+mar[100%] mar(15) CGH Prader Willi syndrome {43} case 3   
  15-P-
q11/
1-13
female/
prenatal
PBL de novo 47,XX,+inv dup(15)(q11)[100%] inv dup(15)(q11)
maternal UPD 15
cep probes wcp 15, PWS specific probes; UPD-test Prader Willi syndrome {223} case 4   
  15-P-
q11/
1-14
female/
17y
PBL n.a. 47,XX,+mar[70%]/
46,XX[30%]
inv dup(15)(q11)
maternal UPD 15
cep probes wcp 15, PWS specific probes; UPD-test Prader Willi syndrome {338}  
  15-P-
q11.1/
1-1
male/
1m
PBL de novo 47,XY,+mar[70%]/
46,XY[30%]
min(15)(pterq11.1:)
maternal UPD 15
cenM; subcenM; UPD-test Prader Willi syndrome {168, 330}  
  15-P-
q11.1/
1-2
female/
13y
PBL de novo 47,XX,+mar[100%] min(15)(pterq11.2:)
maternal UPD 15
cep 15; LSI SNRPN; UPD-test Prader Willi syndrome {147}  
  15-P-
q11.1/
2-1
female/
12y
PBL de novo 47,XX,del(15)(q11.200→q11.207), +inv dup(15)(q11.1)[100%] n.a. n.a. Prader Willi syndrome {58} case 2  
  15-P-
q11.1/
2-2
female/
1m
PBL de novo 47,XX,+mar[55%]/
46,XX[45%]
inv dup(15)(q11.1)
maternal UPD 15
centromeric probes; UPD-test Prader Willi syndrome {164, 330}  
  15-P-
q11.1/
2-3
n.a./
13y
PBL n.a. 47,+mar[?%]/
46[?%]
inv dup(15)(q11.1)
no UPD 15
centromeric probes; UPD-test Prader Willi syndrome due to microdeletion {287} case 41  
  15-P-
q11.1/
2-4 to
 2-5
n.a./
prenatal
AF de novo 47,+mar[?%]/
46[?%]
inv dup(15)(q11.1)*
maternal UPD 15
centromeric probes ?; UPD-test Prader Willi syndrome {290, 330} 2 cases  
  15-P-
q11.1/
2-6
male/
prenatal
AF de novo 47,XY,+mar[39%]/
46,XY[61?%]
inv dup(15)(q11.1)*
maternal UPD 15
centromeric probes ?; UPD-test Prader Willi syndrome, TOP {291, 330}  
   15-P-
q11.1/
2-7
female/
prenatal
AF n.a. 47,XX,+mar[50%]/
46,XX[50%]
inv dup(15)(q11.1)
maternal UPD 15
acrocenM, subcenM; UPD-test advanced maternal age - pregnancy continued {330}  
  15-P-
q11~
13/
1-1
male/
29y
PBL de novo 47,XY,+mar [85%]/
46,XY[15%]
inv dup(15)(pterq11: :q13pter)*
maternal UPD 15
YAC probes as specified in {57}; UPD-test Prader Willi syndrome {57} case 13
{330}
 
  15-P-
q11~
13/
1-2
male/
1 w
PBL de novo 47,XY,+mar[16%]/
46,XY[84%] 
r(15)(::p11.1q11.1~q13::) 
maternal UPD 15
sSMC derived from paternal chromosome 15
all cep;
SNRPN; 
D15Z4 ; UPD-test
 see below  {152, 330}  
result of an in vitro fertilization procedure; intrauterine growth retardation was detected by ultrasound; and fetal movements in the low range. Birth was induced at 35 weeks because of fetal distress. Apgar score 1 at 1 min and 8 at 5 min; birth weight 1.290 kg; generalized hypotonia  both testes were palpated in the inguinal region and were surgically reduced, the penis was small. At that time he weighed 2.490 kg and the mother complained of feeding difficulties. walking at 3 years; first words at  3.5 years, excessive eating started at  3 years, his weight at 3.5 years was 18 kg (>97%) and his height was 93 cm (50%). facial appearance was typical for Prader-Will syndrome (PWS); 
  15-P-
q11.2/
2-1
female/
4m
PBL/skin fibroblasts de novo 45,XX,trob(15;15)[34]/
46,XX,trob(15;15),+mar1[41]/
46,XX,trob(15;15),+mar2[2]/
46,XX,trob(15;15),+mar1x2[0]
(in fibroblasts: 60/130/8/2)
mar1 = r(15)(::p11.1q11.2::)
mar2 = r(15;15)(::p11.1
q11.2:
:p11.1
q11.2::)
n.a. Prader Willi syndrome {58}  
  15-P-
q11.2/
2-2
female/
postnatal
PBL n.a. 47,XX,inv(13)(q22q34),+mar[3]/
46,XX,inv(13)(q22q34)[56]
inv dup(15)(q11.2)
maternal UPD 15
 
SNRPN, cep15, UPD test Prader Willi syndrome {316}
case 1
 
  15-P-
q11.2/
3-1
male/
17y
PBL mat. 47,XY,+mar[100%] der(15)t(3;15)(p25;q11.2)
maternal UPD 15
FISH Prader Willi syndrome {339} case JB  
  15-P-
q12/
1-1
male/
16y
PBL/skin fibroblasts de novo 48,X,t(Y;15)(q21;q12),
+inv dup(15)x2[2/1]/
47,X,t(Y;15)(q21;q12),
+inv dup(15)[38/5]/
46,X,t(Y;15)(q21;q12)[41/89]
n.a. n.a. Prader Willi syndrome {24} case 1  
  15-P-
q12/
2-1
male/
11.5y
PBL de novo 47,XY,+min(15)(pter→q12:)[100%] n.a. n.a. Prader Willi syndrome {60}  
  15-P-
q12/
2-2
male/
23y
PBL de novo 47,XY,+min(15)(pter→q12~3:)*[100%] n.a. n.a. Prader Willi syndrome {103} reported case  
  15-P-
q12/
2-3
female/
16m
PBL de novo 47,XX,+mar[20%]/46,XX[80%] inv dup(15)(q12~13)
FISH-data: SNRPN at 22.8MB on sSMC
maternal UPD 15
SNRPN; UPD-test Prader Willi syndrome {293}  
  15-P-
q12/
2-4
female PBL n.a. 47,XX,+mar[3]/46,XX[17] inv dup(15)(q12~13)
FISH-data: SNRPN at 22.8MB on sSMC
maternal UPD 15
SNRPN; UPD-test Prader Willi syndrome {316}
case 2
 
 
  15-P-
q21/
1-1
male/
n.a.
PBL de novo 47,XY,+min(15)(pter→q21:)*[100%] n.a. n.a. Prader Willi syndrome {103}  personally comunicated by Lubunski  
                     

 Some additionally reports with SMC in PWS cases in the pre-FISH-era are available in the literature and not listed here like e.g. {22};
in {73} review of such cases before 1986 (some of them included in list above, as well).

 


References


 

Cases with a sSMC and Angelman phenotype (A)

 

                     
  case no.  gender/ age at diagnosis studied 
material
de novo/ 
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  15-A-
q11/
1-1
male/
4y
PBL de novo 47,XY,+inv dup(15)(q11)[60%]/
46,XY[40%]
n.a.
paternal UPD 15
n.a.; UPD-test Angelman syndrome {19} case 1; {294, 330}  
  15-A-
q11/
1-2
male/
18m
PBL de novo 47,XY,+mar[50] inv dup(15)(q11)
paternal UPD 15
FISH with D15S63; cen15; UPD.test Angelman syndrome {78; 79}  
  15-A-
q11/
2-1
female/
14m
PBL de novo 47,XX,+r[50] r(15)(::p?q1?1::)*
del(SNRPN) on one 'normal' chromosome
multiprobe FISH; SNRPN Angelman syndrome {155}  
  15-A-
q11.2/
1-1
male/
prenatal
AF n.a. culture 1: 47,XY,+mar[100]
culture 2: mar only in 32%
inv dup(15)(q11.2)
Array-CGH: 0.00-21.29 MB
paternal UPD 15
cenM; subcenM; UBE3A; array-CGH; UPD.test Angelman syndrome {330}   
  15-A-
q11
~12/
1-1
male /
2.5y
PBL de novo 47,XY,del(15)(q11→q13),+mar[50] inv dup(15)(q11~12)* FISH with D15Z2 and GABRB3 Angelman syndrome {61}   
  15-A-
q13/
1-1
male /
6y
PBL de novo 47,XY,+mar[50] inv dup(15)(q13) FISH with D15Z2 and GABRB3 Angelman syndrome {20} case 1  
  15-A-
q13/
1-2
male /
13y
PBL de novo 47,XY,+mar[50] inv dup(15)(q13) FISH with D15Z2 and GABRB3 Angelman syndrome {20} case 2  
                     

 Some additionally reports with SMC in PWS cases in the pre-FISH-era are available in the literature and not listed here like e.g. {22};
in {73} review of such cases before 1986 (some of them included in list above, as well).


References

 

Cases with neocentromeres (N)

 

                     
  case no.  gender/ age at diagnosis studied 
material
de novo/ 
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  15-N-
1a
see 15-N-qt23/1-2    
  15-N-
mar/1
n.a./
n.a.
PBL? n.a. 47,+mar[?] mar(15) SKY poor growth;  developmental delay  {128} case 6  
  15-N-
mar/2
female/
prenatal
AF de novo 47,XX,+mar[100%] mar(15) wcp15; cep15 see below {26} case 11{244}  
multiple congenital abnormalities after birth; abnormal ultrasound findings during pregnancy
  15-N-
q11.2/
1-1
female/
15y
PBL de novo 47,XX,+mar[38]/
46,XX[12]
neo r(15)(::q11.2q13.1:
:q11.2
q13.1::) or
r(15)(::q13.1
q11.2:
:q11.2
q13.1::) or neo min(15)(:q13.1q11.2:
:q11.2
q13.1:)
arra
y: 18.26-22.49 MB
M-FISH; MCB, BACs, midi, rev FISH; array-CGH; UPD-test normal, but delayed puberty {298} case 8
{326} case Sn-1
{330}
 
  15-N-
q11.2/
2-1
female/
15y
PBL de novo 47,XX,+mar[27]/
46,XX[2]
neo r(15)(::q11.2q13:
:q11.2
q13::)
array: 20.33-26.86 MB
subcenM, BACs, midi, rev FISH; array-CGH Short stature, absence of pubertal signs, Madelung deformity, slight shortening of the radius and broad
"shield-like" thorax.
{326} case Sn-2
 
 
  15-N-
q22.1/
1-1
n.a./
15y
PBL de novo 47,+mar[70%]/
46[30%]
(mar in 49% of fibroblasts)
r(15)(::q22.1q22.3::){175}
or  r(15)(::q22.2
q24.1::)
{224, 225, 239}
CGH; FISH with BAC probes; M-FISH see below {175} case 2, {224} case 115, {225, 239; 244}  
increased postnatal growth, obesity, long fingers, facial dysmorphism; at birth in 42 week of gestation: 2550g, 53cm; weight, length and OFC <3rd centile; at 1 y: 76cm (>25centile), 9350g (>25centile), at 6y 125cm (>90centile), 29kg (>95centile); mentally normal at 21y
  15-N-
q22.1/
1-2
female/
prenatal
AF de novo 47,XX,+mar[1]/
47,XX,del(15)(q22) or t(15;?)(q22;?),+mar[1]/
46,XX[30]
inv dup(15)(qterq22:
:q22
qter)
wcp, MCB see below {0}  
advanced maternal age, normal child born
  15-N-
qt23/
1-1
male/
1w
PBL/ fibroblasts de novo 47,XY,+mar[70%]/
46,XY[30%]
(mar in 11% of fibroblasts)
inv dup(15)(qterq23: :q23qter) all  cep probes; telomeric probe; midi; specific probe in 15q26 see below {15} case 49; {110} case A
{116; 144; 167; 244}
 
uneventful pregnancy and birth; weight: 3370g, length 51cm; peculiar appearance with antimongoloid slant of palpebral fissures, epicanthic folds, low-set ears, bulbous nose, broad nasal root, retrognathia, high arched palate, long philtrum, down-turned corners of the mouth, arachnodactyly of fingers and toes, joint contractures of hips; asymmetric thorax and head, thoraco-lumbar kyphosis; delayed psychomotor development + mental retardation; at 2y 98cm height (98. percentile), bilateral sensor neural hearing loss.
  15-N-
qt23/
1-2
female/
11y
PBL
(EKF-
cellbank)
de novo 47,XX,+mar[4]/
46,XX[46]
inv dup(15)(qterq24.1:
:q24.1
qter)
all wcp probes; telomeric probe; MCB see below {216} case 7
{234}case Neo #15-5 {244}
 
Normal pregnancy and birth. At birth weight 2920g, length 49cm; craniofacial dysmorphism including cataract. Moreover hemangiomas on right forearm, abnormal feet (clasp like). At 6 months developmental delay, muscular hypotonia, spastic legs. At 3 years focal seizures (right). At 11y mental retardation, idiopathic thoracolumbal scoliosis, hip dysplasia, mitral valve prolapsed, weight: 29kg, length 152cm. Low weight in connection with feeding problems.
  15-N-
qt2?4/
1-1
female/
prenatal
AF de novo 47,XX,+mar[100%] inv dup(15)(qterq2?4:
:q2?4
qter)
all available centromeric probes for the acrocentric chromosomes; MLPA Amniocentesis due to diagnosis of Dandy-Walker syndrome in ultrasound, which was confirmed postnatally, child survived only one day. {31} case 3
{300} case 13
 
  15-N-
qt24/
1-1
female/
prenatal
AF/ PBL de novo 47,XX,+mar[50%]/
46,XX[50%]
present in 66% of PBL; 
inv dup(15)(qterq24: :q24qter) wcp15; FES; cen15;  see below {129; 144} case 2, {180} case 10
{167; 244}
 
Amniocentesis due to abnormal ultrasound findings with nuchal edema, complex heart defect, bilateral hydronephrosis; pregnancy terminated in  week 24; acc. to autopsy mild intrauterine growth retardation, polycystic left kidney, dysplastic right kidney
  15-N-
qt24/
1-2
n.a./
n.a.
n.a. n.a. 47,+mar[?%] inv dup(15)(qterq24: :q24qter) n.a. n.a. {261}  
  15-N-
qt24.1
-25.1/
1-1
female/
1w
PBL de novo 47,XX,+mar[80%]/
46,XX[20%]
inv dup(15)(qterq24.1: :q25.1qter)
(acc to 166)
all  cep probes; telomeric probe; midi; specific probe in 15q26 see below {15} case 50; {110} case B
{116; 144; 167; 244}
{166} case 1
 
uneventful pregnancy and birth; weight: 4510g, length 55cm; low-set dysplastic ears, micrognathia, high arched palate, antimongoloid slant of palpebral fissures, epicanthic folds, bulbous nose, long philtrum, down-turned corners of the mouth, ulnar-derivate hands, arachnodactyly of fingers and toes; asymmetric thorax and head, scoliosis, joint contractures of hips; bilateral inguinal hernia, moderate hydrocephalus, bilateral sensor neural hearing loss, delayed psychomotor development + mental retardation; postnatal growth >95. percentile 
  15-N-
qt24~
25/
1-1
female/
3y
PBL de novo 47,XX,+mar[10]/
46,XX[10]
inv dup(15)(qterq24~25: :q24~25qter) M-FISH; MCB see below {0} provided by Dr. Polityko, Minsk, Belarus  
 multiple congenital malformations
  15-N-
qt25/
1-1
female/
1w
PBL de novo 47,XX,+mar[20] inv dup(15)(qterq25: :q25qter) not nearer specified cep probes; SKY see below {112; 144; 167; 244}  
child born at term, normal weight and length; flattened nasal tip; abnormal ears, facial asymmetry, thin upper lip, long philtrum, labia majora hypoplastic, incomplete hip abduction, hypotonic, aortic arch hypoplasia, severe coarctation of aorta, moderate VSD, Dandy-Walker variant in brain; severe hearing loss, child died at 12d. 
  15-N-
qt25/
1-2
male/
1w
PBL de novo 47,XY,+mar[79%]/
46,XY[21%]
inv dup(15)(qterq25: :q25qter) wcp15; wcp20; FES-specific probe (15q25-qter) see below {115; 144; 167; 244}  
child born at week 29  due to spontaneous rupture of membranes; bilateral hydronephrosis in ultrasound; weight 1530g (50.-90. centile), length 44cm (>90. centile), OFC 26.5cm (10.-50. centile); APGAR 3/6/10; no spontaneous respiration; turricephaly with metopic ridge; blepharophimosis, high and broad nasal bridge, small mouth, micrognathia, bilateral cup-shaped ears, long fingers and toes, overlapping toes 2over 1 and 4 over5; atrial-septal defect, open ductus arteriousus hydronephrosis of right kidney; child died at 1m
  15-N-
qt25/
1-3
female/
2y2m
PBL/ Fibroblasts de novo 47,XX,+mar[14] at 2y
at 10y in PBL: mar in 10/20
in fibroblasts: mar in 11/60
inv dup(15)(qterq25: :q25qter)
sSMC derived from maternal chromosome 15
pan-centromeric probe, cep15; wcp15; SNRPN, PML probes; UPD-test see below {122; 144; 167; 244}  
child born with normal weight but length >97. centile, ptosis, epicanthal folds, elbow contractures, four-vessel cord, unusual hands and feet; hypoplastic labia majora; no immediate problems at newborn period; At 95. centile length <95. centile, weight at 10. centile, OFC ~90. centile; developmental delay; At 10y height >97. centile, weight at 75. centile, OFC ~90. centile; myopathic facial expression; upslanting eyebrows, bilateral ptosis, down slanting palpebral fissures; abnormal ears; high arched palate, micrognathia, hypomelanosis of Ito; moderate to severe mental retardation.
  15-N-
qt25/
1-4
male/
postnatal
PBL de novo 47,XY,inv(9)(p11q13),+mar[40]/
46,XY,inv(9)(p11q13)[10]
inv dup(15)(qterq25: :q25qter)
sSMC derived from paternal chromosome 15
M-FISH; SKY; different FISH-probes as given in ref 181;  CGH; UPD-test see below {181; 183; 244}  
Born by caesarean section at 37 weeks of pregnancy; pregnancy was complicated by mild bleeding that resolved spontaneously in the first trimester. Presentation was breech. At birth, APGAR 7 and 9, at 1 and 5 min, respectively. weight and length were 3275 g (50th percentile) and 51 cm (50th75th percentile), respectively; his OFC was 33.56 cm (25th percentile). Dysmorphic: cranium was asymmetric, with overlapping of the frontal bone over the parietals, a prominent metopic suture, and a very small anterior fontanel; long face with a prominent, bulbous nose, and microretrognatia. Finger and toes were long. Both hands with finger contractures of second through fourth fingers and extension of the fifth finger, in a position reminiscent of trisomy 18; hypotonic and initially sucked poorly. At 3 months, generally in good health, showed mild developmental delay, and altered muscular tone (hypertonia of lower limbs and hypotonia of upper limbs). weight 6990 g (85th percentile), length 66.5 cm (>95th percentile), and OFC 41.5 cm (55th percentile); strabismus and a left epicanthic fold;  ears small and low-set, nasal bridge wide, nipples hypoplastic, and a hydrocele was noted;  sacral pilonidal sinus and hypoplastic toenails; audiogram → bilateral sensor neural hearing loss. At 7 months, weight (9360 g) and length (76 cm) are at 85th and 97th percentile, respectively, OFC 45.6cm (75th percentile). He is alert and responsive but did not roll over.
  15-N-
qt25.1/
1-1
female/
4y
PBL n.a. 47,XX,+mar[83]/
46,XX[17]
inv dup(15)(qterq25.1: :q25.1qter)
array: 79.18 MB to qter
array-CGH BW: 3400g, APGAR 6/7, facial dysmorphies, campodactyly  {0} provided by Dr. Melaragno, Sao Paulo, Brasil  
  15-N-
qt25.2/
1-1
male/
10y
PBL de novo 47,XY,+mar[100%] inv dup(15)(qterq25.2: :q25.2qter)
array: 82.94 MB to qter
array-CGH mental retardation, developmental delay; dysmorphhic, long face {321} case 1  
  15-N-
qt25.2/
1-2
male/
prenatal and newborn
AF/ PBL de novo 47,XY,+mar[10]/
46,XY[5]
inv dup(15)(qterq25.2: :q25.2qter)
array: 82.64 MB to qter
array-CGH mental retardation, developmental delay; dysmorphhic, long face {323}  
  15-N-
qt25.2-
25.3/
1-1
n.a./
postnatal
PBL de novo 47,+mar[?]/
46[?]
inv dup(15)(qterq25.3: :q25.2qter) BAC probes as given in  ref 166 see below {166} case 2
{167; 244}
 
Birth: at term; weight 3200 g; length 47 cm. At the age of 18:weight 55 kg, height 152 cm, lower limb asymmetry, bilateral palpebral ptosis, hyperlaxity of connective tissue, speech delay, mild mental retardation. 
  15-N-
qt25.3/
1-1
female/
1w
PBL de novo 47,XX,+mar[82%]/
46,XX[18%]
inv dup(15)(qterq25.3: :q25.3qter) alpha-, beta-satellite satIII telomeric, all wcp, YAC-probes (not specified) mental retardation and/or developmental delay or structural anomalies detected at birth {111} case 1
{116; 144; 167; 244}
 
  15-N-
qt25.3/
1-2
male/
1w
PBL de novo 47,XY,+mar[74%]/
46,XY[26%]
inv dup(15)(qterq25.3: :q25.3qter)
sSMC derived from paternal chromosome 15
alpha-, beta-satellite satIII telomeric, all wcp, YAC-probes (not specified); UPD-test mental retardation and/or developmental delay or structural anomalies detected at birth {111} case 2
{116; 144; 167; 244}
 
  15-N-
qt25.3/
1-3
female/
4.5y
PBL de novo 47,XX,+mar[19]/
46,XX[1]
inv dup(15)(qterq25.3: :q25.3qter) CGH, wcp15, SNRPN, PML, FES, D15Z, pan-centromeric probe see below {127; 144; 167; 244}  
birth weight , length and weight >75., >95. and >95. centile; macrodolichocephaly, hypotonic, fingers with camptodactyly, strabismus, overgrowth with weight and length >95. centile; facial scoliosis, developmental delay, Wilms tumor at 4y; 
  15-N-
qt25.3/
1-4
male/
prenatal
AF de novo 47,XY,+mar[20]/
46,XY[1]
repeat analysis: mar in 28 of 36
cord blood: mar in 28 of 40
liver: mar in 13 of 40
lung: mar in 14 of 40
skin: mar in 27 of 40
placenta: mar in 0 of 40
umbilical cord: mar in 40 of 40
inv dup(15)(qterq25.3: :q25.3qter)
sSMC derived from maternal chromosome 15
cep 15; subtel 15q, SKY, QF-PCR; UPD-test see below {161; 244}  
Amniocentesis due to advanced  maternal age; TOP at week 22; autopsy showed dysmorphic features of asymmetry of the head, broad nasal bridge, bulbous nose, low set ears, long philtrum, micrognathia, slender fingers and toes, overlapping toes; horseshoe kidney, pulmonary hypoplasia
  15-N-
qt25.3/
1-5
female/
19y
PBL de novo 47,XX,+mar[100%] inv dup(15)(qterq25.3: :q25.3qter)
array: 83.68 MB to qter
array-CGH mental retardation, developmental delay; dysmorphhic, long face {321} case 2  
  15-N-
qt25.3/
1-6
female/
9y
PBL de novo 47,XX,+mar[100%] inv dup(15)(qterq25.3: :q25.3qter)
array: 84.15 MB to qter
array-CGH mental retardation, developmental delay; dysmorphhic, long face {321} case 3  
  15-N-
qt25.3/
1-5
male/
32y
PBL de novo 47,XY,+mar[100%] inv dup(15)(qterq25.3: :q25.3qter)
array: 88.85 MB to qter
array-CGH mental retardation, developmental delay; dysmorphhic, long face {321} case 4  
  15-N-
qt25.3/
1-6
male/
6y
PBL de novo 47,XY,+mar[5]/
46,XY[5]
inv dup(15)(qterq25.3: :q25.3qter)
array: 83.88 MB to qter (hg17)
 
array-CGH mental retardation, developmental delay; dysmorphhic, long face {321} case C-II3
 
 
  15-N-
qt26.1/
1-1
male/
1w
PBL de novo 47,XY,+mar[86%]/
46,XY[14%]
inv dup(15)(qterq26.1: :q26.1qter) alpha-, beta-satellite satIII telomeric, all wcp, YAC-probes (not specified); UPD-test mental retardation and/or developmental delay or structural anomalies detected at birth {111} case 3
{116; 144; 167; 244}
 
  15-N-
qt26.1/
1-2
male/
prenatal
AF/
chord blood
de novo 47,XY,+mar[29]/46,XY[1]
47,XY,+mar[43]/46,XY[22]
inv dup(15)(qterq26.1: :q26.1qter) midi, centromeric probes, wcp see below {172; 173; 177; 244}   
Ultrasound normal in week 18; amniocentesis due to advanced maternal age; born after spontaneous labor at 29 weeks gestation. Birth weight 1940g (60th centile), length 44cm (50th centile), head circumference 31.2cm (above 60th centile); dysmorphic features: short palpebral fissures, broad and flat nasal bridge; telecanthus, high forehead, micrognathia ears low-set and posteriorly rotated with over folded helices, long and thin feet, fifth-finger nail hypoplasia, clinodactyly, scrotum under-developed and testes were undescended bilaterally; chest X-ray →only eleven ribs, bilateral corneal dystrophy; on day three of life, renal failure. Death on day five.
                     

 

N-Cases with similar imbalances NOT caused by sSMC (N-IMB)

 

                   
  case no.  gender/ age at diagnosis studied 
material
de novo/ 
inherited
GTG-banding result and FISH result incl. grade of mosaicism test
methods
clinical symptoms reference  
  15-N-
IMB-
q22/
mult

see {268}

{268}  
  15-N-
IMB-
q24/
1-1
n.a./
n.a.
n.a. n.a. 46,trp(15)(q24q26) n.a. congenital anomalies {247}  
  15-N-
IMB-
q24.3/
1-1
male/
23y
PBL de novo 46,XY,trp(15)(pterqter:
:qter
q24.3::q23.3qter)[68%]/
46,XY,der(3)t(3;15)(15qter→
.3:
:15q24.3
15qter: :3pter3qter)[7%]/
46,XY[25%]
 triplication derived from paternal chromosome 15
different FISH-probes and  BACs; UPD-test see below {219}  
Born at 37 weeks gestation with loop of umbilical cord and APGAR scores 4, 7, and 10 at 1, 5, and 10 min. Birth weight 2,810 g (10th-5th centile), length 51 cm (50th-90th centile). Facial dysmorphism and left body hemihypertroph; psychomotor development delayed. Cerebral tomography at 1 year old: ventricular dilatation and septum lucidum cyst. At 6 years: he underwent treatment for left Wilm’s tumor (stage II) including left nephrectomy, chemotherapy, and irradiation. He had two fractures of the left femur at 17 years old. At 23 years: weight 43 kg, height 162 cm (underestimated because of a severe scoliosis), head circumference 56 cm. Face and body were asymmetrical, with left hemi-hypertrophy. Dysmorphic features: up-slanting palpebral fissures, strabismus, long pyramidal nose, short philtrum, retrognathism and low-set, small and squared right ear with a thick helix. Fingers thin and long, toes stocky with bilateral hallux valgus. Other features: severe scoliosis, asymmetry of lower limbs, numerous naevi, developmental delay with sociable behavior and hearing loss.
  15-N-
IMB-
q25.2/
1-1
male/
4y8m
PBL de novo 46,XY,der(15)(qterq25.2:
:p11.1
qter)
different FISH-probes wcp 15 and  BACs see below {230}  
Delivery with caesarean section because of dystocia and reduction of cardiac rate for a few minutes. Birth after 39 weeks of gestation, weight 2.750 g (10th centile), length 50 cm (>25th centile), OFC 32 cm (<3rd centile). APGAR 7 and 10. At birth congenital bilateral strabismus. Developmental delay; did not walk until 18-20 months, no speech at ~5y. At 4y 8m severe language delay and behavioral problems (hyperactivity, motor stereotypes, social isolation); no relevant dysmorphic features except prominence of metopic sutures and he seemed older than his chronological age and bone age equivalent to that of a 7-year-old boy. Occipitofrontal circumference 52 cm (50-75th centile), weight 22.300 g, height 118 cm (at and above the 97th centile). He was clumsy with deficits noted in fine motor coordination. He was toilet trained. In routine blood analysis slight anemia with microcytosis. Brain MRI scan 0.5 T images showed a supratentorial widening of the ventricular system and a slight asymmetry, with irregular outline of lateral ventricles. A minor brain malformation, i.e., a thin corpus callosum and hypotrophic shortened hippocampi with slight asymmetry of the cerebellar tonsils, the right one slightly overhanging the foramen magnum, was seen. He met the criteria for classic autism in all the three main domains which are usually considered, i.e., communication, reciprocal social interactions and behavior. At 4 years and 9 months he experienced his first seizure, characterized by localized motor phenomena (left arm myoclonic jerks and deviation of gaze and head to the right) followed by generalized tonic clonic activity.