FISH

SMALL SUPERNUMERARY MARKER CHROMOSOMES

- sSMC 15 -

 References

Cases with clinical findings (W)

 

                     
  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-W-
q11.1/
1-1		 female/
6.5y		 PBL
(EKF-
cellbank)		 de novo 47,XX,+mar[13]/
46,XX[11] 		 r(15)(::p11.1→q11.1::)  M-FISH;
cenM;
subcenM;
acro-cenM;
telomere probes		 suspicion of Turner syndrome {184}case 15-1  
  15-W-
q11.1/
2-1		 female/
postnatal		 PBL de novo 47,XX,+mar[70%]/
46,XX[30%] 		 inv dup(15)(pter→q11.1:
:q11.1→p11.1::)		 cenM;
subcenM		 clinically abnormal, epilepsy and psychomotor developmental delay {0} provided by Carme Fuster Barcelona, Spain  
  15-W-
q11.1/
3-1		 male/
1m		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM;
subcenM; UPD-test		 anal atresia, hypospadias, kidney dystrophy {0}provided by Dr. Mitulla, Suhl, Germany  
  15-W-
q11.1/
3-2		 male/
11y		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) cep probes; subcenM dwarfism {0} provided by Dr. Küchler Essen, Germany  
  15-W-
q11.1/
3-3		 female/
9y		 PBL de novo 47,XX,+mar[50%]/
46,XX[50%]		 inv dup(15)(q11.1)
array-CGH: no abnormal result for #15		 midi, cep probes; array-CGH mental retardation {0}  
  15-W-
q11.1+
q11.2/
1-1		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] dic(15)(q11.1;
q11.1~11.2)[6]/
dic(15)(q11.1;q11.2)[9]		 acrocenM, subcenM advanced maternal age; child died intrauterine at week 20 of gestation {298}case 7  
  15-W-
q11.1~
13/
1-1		 moved to 15-P-q11.1~13/1-2 {152}  
  15-W-
q11.2/
1-1		 n.a./
postnatal		 PBL de novo 47,+mar[70%]/
46[30%] 		 mar(15)(p?→q11.2)*
size ~0.3 MB		 n.a.; subcenM; array CGH Developmental delay; walked at 19 months of age; mild dysmorphic features; small secundum atrial septal defect. {243} case 15  
  15-W-
q11.2/
2-1		 male/
8y		 PBL n.a. 47,XY,+mar[10]/
46,XY[40]		 inv dup(15)(q11.2) cenM, subcenM Developmental delay {0} provided by Jasen Anderson, Brisbane, Australia  
  15-W-
q11.2/
2-2		 male/
postnatal		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.2)
 FISH-data:  RP11-307C10 at 20.6MB on sSMC		 cenM, subcenM severe psychomotor delay, muscular hypotonia, exotropia; {0} provided by Dr. I. Iourov, Moscow, Russian Federation  
  15-W-
q11.2/
2-3 to
2-4		 female/
postnatal		 PBL de novo 47,XX,+mar[100%] inv dup(15)(q11.2) cenM, subcenM abnormal phenotype {297} cases 14 and 16  
  15-W-
q11.2/
3-1		 male/
postnatal		 PBL n.a. 48,XY,+dic rx2[2]/
47,XY,+r[29]/
47,XY,+dic r[1]/
46,XY[3]		 r(15)(p11.1q11.2)
 FISH-data:  RP11-307C10 at 20.6MB on sSMC		 cep probes, subcenM short stature, nephropathy, high-arched palate. {0} provided by Dr. I. Iourov, Moscow, Russian Federation  
  ***
15-W-
q11.2/
4-1
***		 male/
6m		 PBL de novo 47,XY,+mar[16]/
46,XY[13]		 min(15)(pter→q11.2:)
 FISH-data:  break between SNRPN (22.8MB)  and UBE3A (23.2 MB)		 ccenM, subcenM,
SNRPN, UBE3A		 muscular hypotonia walking with 25 months, delayed speach development, hypotonia disappeared
 {0} provided by Dr. Kunz, Berlin, Germany  
  15-W-
q11.2-
q13/
1-1		 n.a./
postnatal		 PBL n.a. 47,+mar[100%] inv dup(15)(pter→q11.2:
:q13→pter)		 cep
SNRPN		 Iseizures, muscular hypotonia {0} provided by Dr.M. Volleth,
Magdeburg, Germany		  
  15-W-
q12/
1-1		 male/
15y		 PBL de novo 47,XY,+mar [32] inv dup(15)(q12)
 FISH-data:  RP11-171C8 at 23.0MB on sSMC		 M-FISH;
cenM;
subcenM		  psychomotor retardation; clinical signs like Martin-Bell syndrome; West-syndrome {0} provided by Dr. I.  Bartels,
Göttingen, Germany		  
  15-W-
q12?/
1-2		 male/
2.4y		 PBL de novo 47,XY,+mar[18]/
46,XY[2]		 inv dup(15)(q1?2*) one FISH probe (D15Z1) see below {7} case 2
{184}case 15-2		  
born at term with cesarean section; weight 3570g; length 50cm; head circumference 38cm; tetralogy of Fallot; macrocephaly; hypertelorism; low-set ears; long philtrum; thin mucosal upper lip; upturned nose; median dimple of the nasal bridge, short neck; severe cong. hypothyroidism; mild mental retardation
  15-W-
q12/
1-3		 female/
n.a.		 n.a. maternal 47,XX,+mar [100%] inv dup(15)(q12) 
 FISH-data: SNRPN at 22.8MB on sSMC		 cen probes
SNRPN		 psychomotor retardation (?) {148}
case 11		  
  15-W-
q12/
1-4		 male/
n.a.		 n.a. n.a. 47,XY,+mar [100%] inv dup(15)(q12) 
1 SNRPN signal on mar
 FISH-data: SNRPN at 22.8MB on sSMC		 cen probes
SNRPN		 psychomotor retardation (?) {148}
case 22		  
  15-W-
q12/
1-5		 male/
1y		 PBL n.a. 47,XY,+mar [100%] inv dup(15)(q12) 
 FISH-data:  RP11-307C10 at 20.6MB on sSMC		 cenM;
subcenM;
MCB		 see below {0} provided by Dr. J. Vermeesch,
Leuven, Belgium		  
moderate developmental delay without dysmorphic features with pervasive behavior problems which diminished but remained present at the age of five. At this age, verbal IQ was 2-2.5 years old.
  15-W-
q12/
1-6 to
1-9		 2x male, 2x female/
postnatal		 PBL de novo 47,+mar[100%] inv dup(15)(q12) 
 FISH-data: SNRPN at 22.8MB on sSMC		 cep
SNRPN		 abnormal phenotype {297}cases 11-13, 14  
  15-W-
q12/
1-10		 male/
10y		 PBL de novo 47,XY,+mar[4]/
46,XY[10]		 inv dup(15)(q12) 
 FISH-data: SNRPN at 22.8MB on sSMC		 cep
SNRPN		 abnormal phenotype {297}case 18  
  15-W-
q12/
1-11		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] inv dup(15)(q12) 
 FISH-data: SNRPN at 22.8MB on sSMC		 cep
SNRPN, MLPA		 IUGR {300}case 12  
  15-W-
q12/
2-1		 male/
postnatal		 PBL n.a. 47,XY,+mar [100%] min(15)(pter→q12)  n.a. psychomotor retardation (?) {285}
case 12		  
  15-W-
q12/
2-2		 female/
10y		 PBL de novo 47,XX,+mar [100%] min(15)(pter→q12) * n.a. abnormal phenotype {297}
case 19		  
  15-W-
q12/
3-1		 n.a./
postnatal		 PBL n.a. 47,+mar[83%]/
46[17%]		 r(15)(::p10→q12:
:q12→p10::)*
 distal clone in 15q RP11-30G8 (25.62 MB)		 array-CGH see below {215} case 10  
developmental delay, multiple congenital abnormalities
  15-W-
q12/
4-1		 male/
1y		 PBL de novo 48,XY,+marx[100%] inv dup(15)(q12)x2 FISH - cep probes see below {0}  
Born at 38 weeks by Caesarian section (was in breech), weight 6lb 13.5 - apgar 9+9; sacral dimple; small VSD (healed by 6 months), global developmental delay, walked at age 3 years, growth fairly normal, height is 5ft 6ins at 18y, head circumference normal, mostly content and happy (although as he is getting older he gets more and more frustrated and cross), never cries, high pain threshold, seizures - absences and tonic clonics, seizure onset age was 9 years (all EEG’s normal), constant drooling, no speech but makes a consistent sound (annoying!), very flexible joints, short attention span, walks with an ataxic gait (feet turned inwards slightly), hypotonia, short sighted (-1.75), eczema, MRI scan at age 6 (2000) showed an abnormality on the white matter (inconclusive result -neurologist thought possible brain haemorrhage in-utero), cannot chew, has been hospitalised because of severe choking incident in 2008, fluoroscopy revealed he doesn’t chew; mild thoracic scoliosis. (data provided by his mother - e-mail contact available on request at contact of this web page)
  15-W-
q12?/
1-1		 n.a/
n.a.		 PBL de novo n.a. inv dup(15)
(q11.2~13)		 acro M Mental retardation; dysmorphic signs {27} case 8  
  15-W-
q12?/
1-2 to
 1-5		 female/
prenatal up to 7y		 AF/PBL de novo 47,XX,+mar[100%] inv dup(15)
(q12 or 13)		 all available centromeric probes; wcp 15 Mental retardation; dysmorphic signs; developmental retardation {35} cases 23-26  
  15-W-
q12?/
1-6 to
 1-15		 male/ female/
3y to 36y		 PBL de novo 47,+mar[100%]
(case 34 in mosaic form, mar in 84%)		 inv dup(15)
(q11.2~13)		 all available centromeric probes, wcp 15 Mental retardation; retarded development {15} cases 34-43  
  15-W-
q12?/
1-16 to
 1-19		 male/ female/
4y to 7y		 PBL de novo 47,+mar[100%] inv dup(15)(q12~13)
 FISH-data: GABR3 at 23.3MB on sSMC		 cep 15, GABRB3, D15S11 see below {44} cases 1-4  
Mental retardation; retarded development, seizures; downslating palpebral fissures. Epicantic folds, low-set ears, hypotonia  (3/4 cases, each)
  15-W-
q12?/
1-20 to
1-22		 male/
2y to 36y		 PBL de novo 47,+inv dup(15)(q12~13)[100%] n.a. n.a. Mental retardation; cryptorchidism {53} 3 cases  
  15-W-
q12?/
1-23 to
 1-35		 male/ female 6/7/
adult		 PBL de novo 47,+mar[100%]
(case 4 mar in 80%)		 inv dup(15)(q12~13) probes as specified in {57}; UPD-test Mental retardation; and developmental retardation and/or behavioral problems {57} cases 1-12; 14  
  15-W-
q12?/
1-36 to
 1-45		 male/ female
5/5/
2y to 36y		 PBL de novo 47,+mar[100%] inv dup(15)(q12~13) YAC probes as specified in {63}, micro satellite analysis; UPD-test Mental retardation; and developmental retardation and/or behavioral problems {63} cases 1-10  
  15-W-
q12?/
1-46		 male/
13y		 PBL de novo 47,+inv dup(15)(q12~13)[100%] n.a. n.a. Mental retardation; behavioral problems, seizures {119}  
  15-W-
q12?/
1-47		 male/
13y		 PBL de novo 47,+mar[100%] inv dup(15)(q12~13); 
1 PWS specific signal on mar only
 FISH-data: SNRPN at 22.8MB on sSMC		 PWS-specific probes; micro satellite analysis; UPD-test Mental retardation; and developmental retardation and/or behavioral problems {123} case B
{124}		  
  15-W-
q12?/
1-48 to
1-54		 male or female/
(young) adults		 PBL de novo 47,+mar[100%] inv dup(15)(q12) or (pter→q11::q13→pter) centromeric probe 15 and 6 single copy probes from 15q11 to 15q13; UPD-test mental retardation of different degrees and in some cases dysmorphic features {47} cases GM06346; ID15-1; ID15-2; ID15-4; HS13; HS14, HS15  
  15-W-
q12?/
1-55 to
1-62		 male/ female
5/3/
~2y to 15y		 PBL de novo 47,+inv dup(15)(q12)
or (pter→q11:
:q13→pter)[100%]		 n.a. n.a. Mental and developmental retardation and/or behavioral problems {55} cases 1-8  
  15-W-
q13/
1-1 to
1-2		 male/
3.5y or 6m		 PBL de novo 47,XY,+mar[100%] inv dup(15)(q13); 
2 PWS specific signals on mar
 FISH-data: SNRPN at 22.8MB on sSMC 		 PWS-specific probes; micro satellite analysis; UPD-test Mental retardation; and developmental retardation and/or behavioral problems {123} cases A, D  
  15-W-
q13/
1-3		 male/
2.5y		 PBL de novo 47,XY,+inv dup(15)(q13)[100%] n.a. n.a. mental retardation {69}  
  15-W-
q13/
1-4		 female/
20m		 PBL de novo 47,XX,+inv dup(15)(q13)[100%] n.a. n.a. developmental delay {67}  
  15-W-
q13/
1-5		 female/
postnatal		 PBL de novo 47,XX,+mar[100%] inv dup(15)(q13); 
2 PWS specific signals on mar 
 FISH-data: SNRPN at 22.8MB on sSMC		 PWS-specific probes; micro satellite analysis; UPD-test Mental retardation; and developmental retardation and/or behavioral problems {125} case HS15  
  15-W-
q13/
1-6		 male/
postnatal?		 n.a. de novo 47,XY,+mar[100%] inv dup(15)(q13); 
2 PWS specific signals on mar 
 FISH-data: SNRPN at 22.8MB on sSMC		 cen probes and SNRPN Mental retardation (?) {148} case 26  
  15-W-
q13/
1-7		 n.a./
postnatal		 PBL de novo 47,+mar[100%] inv dup(15)(q13); 
2 PWS specific signals on mar 
 FISH-data: SNRPN at 22.8MB on sSMC		 cen probes and SNRPN  see below {160}  
hypomelanosis of Ito having mental, psychomotor and speech retardation, hypotonia and behavioral problems
  15-W-
q13/
1-8		 male/
postnatal		 PBL de novo 47,XY,+mar[?%] inv dup(15)(q13)
 2 PWS specific signals on mar 
 FISH-data: SNRPN at 22.8MB on sSMC		 midi, subcenM; SNRPN  see below {0}provided by Dr. N. Rubtsov, Novosibirsk, Russian Federation  
Twin pregnancy; sSMC only in this twin and not in other, selective termination of this twin; co-twin was normal at birth
  15-W-
q13/
1-9		 female/
prenatal		 AF de novo 47,XX,+mar[100%] inv dup(15)(q13)
 2 PWS specific signals on mar 
 FISH-data: D15s11 at 22.8MB on sSMC		 centromeric probes; D15S11 see below {180} case 1  
nanism, short neck, intracranial hypertension, hyperactivity, mild mental retardation, speech disturbance, mindless, irritability, cramps, permanent headache.
  15-W-
q13/
1-10		 n.a./
postnatal		 PBL de novo 47,+mar[100%] inv dup(15)(q13)
 distal clone in 15q RP11-360J18 (28.02MB)		 array-CGH abnormal {215} case 9  
 
  15-W-
q13/
1-11		 female/
7y		 PBL de novo 47,XX,+mar[25%]/
46,XX[75%]		 inv dup(15)(q13)
 FISH-data: SNRPN at 22.8MB on sSMC		 acrocenM, subcenM, SNRPN mentally retarded; FRA-X suggested {0} provided by Drs. Wagner, Stibbe, Hannover, Germany  
  15-W-
q13/
1-12 to
 1-18		 3x female; 5x male/
postnatal		 PBL de novo 47,+mar[100%] inv dup(15)(q13)
 FISH-data: SNRPN at 22.8MB on sSMC		 cep 15 ; SNRPN abnormal/ mentally retarded {297} cases 1-6, 8-9  
  15-W-
q13/
1-19		 female/
11y		 PBL de novo 47,XX,+mar[17]/
46,XX[32]		 inv dup(15)(q13)
 FISH-data: SNRPN at 22.8MB on sSMC		 cep 15 ; SNRPN abnormal/ mentally retarded {297} case 7  
  15-W-
q13/
1-20		 female/
8y		 PBL de novo 47,XX,+mar[48]/
46,XX[50]		 inv dup(15)(q13)
 FISH-data: SNRPN at 22.8MB on sSMC		 cep 15 ; SNRPN abnormal/ mentally retarded {297} case 17  
  15-W-
q13/
1-21		  male PBL  de novo 47,XY,+mar[100%] inv dup(15)(q13)
 array-data: 12MB involved		 array-CGH DD/ mentally retarded {308} 1 case  
  15-W-
q13/
2-1		 female/
3y		 PBL de novo 48,XX,+marx2 2 x inv dup(15)(q13) cenM; subcenM, MCB; UPD-test see below {1} case 22
{2}		  
Anthropometric measurements at birth were within the normal range (length 50 cm, weight 3520 g, head circumference 34 cm). The girl had postaxial polydactyly of both hands and the right foot, a hemangiomas of the back (5x5cm) and muscular hypotonia. The heart showed patent ductus arteriousus and an open foramen ovale. Beginning with the age of 3 days the girl developed seizures, that are still difficult to cure. At the age of 3¼ years she presented with severe developmental delay and microcephaly {44 cm,-4 SD}. Height and weight were within the normal range for her age. In addition, she has strabismus, hyperopia and coxa vara on both sides. MRI scan of the scull revealed pachygyry.
  15-W-
q13/
2-2		 female/
8m		 PBL de novo 48,XX,+marx2 2 x inv dup(15)(q13)*
 FISH-data: SNRPN at 22.8MB on sSMC		 different FISH probes: (cep 15; wcp 15; SNRPN); UPD-test see below {14} case2
 		  
severe psychomotor retardation, clefting of soft palate, hypotonia; seizures from 2m of age, brachycephaly, bitemporal narrowing, low-set ears, short neck, soft hands with brachydacyly, abnormal EEG, abnormal heart X-ray.
  15-W-
q13/
2-3		 female/
prenatal		 AF de novo 48,XX,+marx2 2 x inv dup(15)(q13)
 FISH-data: SNRPN at 22.8MB on sSMC		 PWS-specific probes; micro satellite analysis; UPD-test see below {123} case C
 		  
severe psychomotoric retardation, Born with weight, lenght and OFC <10. centile; mild cyanosis and hypotonia, abnormal ears, seizures, At 5m length and OFC <3rd centile.
  15-W-
q13/
2-4		 female/
1y		 PBL de novo 48,XX,+marx2[23%]/
46,XX[77%]		 2 x inv dup(15)(q13)
 FISH-data: SNRPN at 22.8MB on sSMC
array-data: 0.00-26.34 MB		 PWS-specific probes; subcenM, cep probes
array-CGH		 see below {0} provided by Dr. Dufke, Tübingen, Germany
 		  
developmental and mental retardation; no malformations, seizures
  15-W-
q13/
3-1 to
3-2		 female/
postnatal		 PBL de novo 47,XX,+r[12 or 20]/
46,XX[18 or 10]		 r(15)(::p1?→q13::)*
duplicated in a different degree in cen-near position		 YAC probes specific for centromere-near 15q to 15q13, micro satellite analysis; UPD-test not nearer specified clinical symptoms in all cases {39} cases  A15; A16  
  15-W-
q13/
3-3		 male/
5y		 PBL maternal (mosaic in mother) 47,XY,+mar[100%] r(15)(::p13~12→q13::)
 FISH-data: SNRPN at 22.8MB on sSMC		 M-FISH, cenM, subcenM, SNRPN  see below {0} provided by Dr. J. Vermeesch, Leuven, Belgium  
unspecific phenotype with moderate to severe mental retardation. At 5 years IQ of 37. The parents are also mild mentally retarded.
  15-W-
q13/
4-1		 male/
4y		 PBL de novo 47,XY,+mar[100%] inv dup(15)(pter→q11.1:
:q13→pter) 
 FISH-data: UBE3A at 22.8MB on sSMC		 centromeric probes subcenM, PML, UBE3A mentally retarded. {0} provided by Dr. Spranger, Bremen, Germany  
  15-W-
q13/
5-1		 female/
postnatal		 PBL de novo 47,XX,+mar[100%] min(15)(pter→q13:)
 FISH-data: SNRPN at 22.8MB on sSMC		 centromeric probes subcenM mild mentally retarded. {0} provided by Dr. I. Iourov, Moscow, Russian Federation  
  15-W-
q13/
5-2		 male/
8y		 PBL n.a. 47,XY,+mar[100%] min(15)(pter→q13:)*
 FISH-data: SNRPN and GABRB3 at 22.8MB on sSMC		 centromeric probes SNRPN, GABRB3 delayed in development, at 8y OFC below 56th centile; facial dysmorphic, hyperactive, severe mental retardation, seizures, autism {279}  
  15-W-
q13/
5-3		 male/
15y		 PBL n.a. 47,XY,+mar[?%]/
46,XY[?%]		 min(15)(pter→q13:)* centromeric probes delayed in development {288}  
  15-W-
q13/
5-4		 female/
10y		 PBL n.a. 47,XY,+mar[?%]/
46,XY[?%]		 min(15)(pter→q13:)*
array-data: break ~26.0MB		 array-CGH delayed in development, multiple anomalies as reported in ref. 302 {302}  
  15-W-
q13/
6-1		 female/
15y		 PBL de novo 47,XX,+mar der(15)(pter→q13:
:q13→cen→q13:
:q13pter)		 PWS-specific probes; MLPA; UPD-test see below {299}  
developmental and mental retardation; IUGR, strabismus, mild hypotonia, seizures
  15-W-
q13/
6-2		 male/
10y		 PBL de novo 47,XX,+mar der(15)(pter→q13:
:q13→cen→q13:
:q13pter)		 FISH see below {165}case 1  
developmental and mental retardation; facial dysmorphism; seizures
  15-W-
q13/
6-3		 male/
5y		 PBL de novo 47,XX,+mar der(15)(pter→q13:
:q13→cen→q13:
:q13pter)		 FISH see below {165}case 2  
developmental and mental retardation; facial dysmorphism; seizures
  15-W-
q13.1/
1-1		 n.a./
postnatal		 PBL de novo 47,+mar[90%]/
46[10%]		 min(15)(pter→q13.1:
:q11.2→q13.1:)*
distal clone in 15q RP11-959E3 (25.95MB)		 array-CGH developmental delay. lack of coordination {215}case 8  
  15-W-
q13.1/
2-1		 male/
9y		 PBL de novo 47,XY,+mar[100%] inv dup(15)(q13.1)
 FISH-data: SNRPN at 22.8MB on sSMC		 cenM, subcenM; BACs absence of language and absence of control of his sphincters. He is under anticomitial treatment. {0} provided by Dr. Carme Fuster, Spain  
  15-W-
q13/
3-1		 male/
14y		 PBL de novo 47,XY,+mar[41]/
46,XY[9]		 trc(15)(pter→q13:
:q13→q11.1:
:q11.1→q13::q13→pter)		 PWS-specific probes; MLPA; UPD-test see below {307}  
developmental and mental retardation; IUGR, seizures
  15-W-
q13/
4-1		  male PBL  de novo 47,XY,+mar[100%] trp(15)(q11q13)
 array-data: 12MB involved		 array-CGH DD/ mentally retarded {308} 1 case  
  15-W-
q13.1/
2-2		 male/
postnatal		 PBL de novo 47,XY,+mar[100%] inv dup(15)(q13.1)
 FISH-data: SNRPN at 22.8MB on sSMC
array: 0.00-26.11		 cenM, subcenM; BACs, midi; array-CGH at 14 years: Severe psychomotor delay; Convulsions - daily; Frequent respiratory infections {0} provided by Joana Melo  (Coimbra, Portugal)  
  15-W-
q13.2/
1-1		 male/
postnatal		 PBL de novo 47,XY,+mar[?%]/
46,XY[?%]		 inv dup(15)(q13.2)
 FISH-data: SNRPN at 22.8MB on sSMC		 cenM, subcenM; BACs mild mental retardation, hypo-hyperpigmentation in skin {0} provided by Dr. Dilek Aktas, Ankara, Turkey  
  15-W-
q13.2/
1-2		 female/
7y		 PBL de novo 47,XX,+mar[100%] inv dup(15)(q13.2)
 FISH-data: SNRPN at 22.8MB on sSMC		 cenM, subcenM; BACs Psychomotor delay, ectoderm dysplasia {0} provided by Dr. Carme Fuster, Spain  
  15-W-
q13.2/
1-3		 male/
prenatal		 AF de novo 47,XY,+mar[100%] inv dup(15)(q13.2)
 FISH-data: SNRPN at 22.8MB on sSMC		 cenM, subcenM; BACs Advanced maternal age, TOP {0} provided by Dr. Mau-Holzmann, Tübingen, Germany  
  15-W-
q13.2/
2-1		 male/
postnatal		 PBL de novo 47,XY,+mar[100%] inv dup(15)(q13.2)
array-data: pter to 28.46 MB
2x on sSMC: pter to 28.17
1x on sSMC: 28.17 to 28.46		 array-CGH Psychomotor delay {0} provided by Dr.Maria Isabel Melaragno, Sao Paolo, Brazil  
  15-W-
q13.2/
2-2		 female/
10y		 PBL de novo 47,XX,+mar[100%] inv dup(15)(q13.2)
array-data: pter to 28.24 MB		 array-CGH Psychomotor delay {0} provided by Dr.Maria Isabel Melaragno, Sao Paolo, Brazil  
  15-W-
q13.3/
1-1		 female/
postnatal		 PBL de novo 47,XX,+mar[100%] inv dup(15)(q13.2~13.3)
 FISH-data: SNRPN at 22.8MB on sSMC
array: 0.00-30.66MB		 cenM, subcenM; BACs, midi
array-CGH; UPD-test		 at 18 years: Psychomotor development delay; speech problems; behavior alterations; aggressiveness; agitation {0} provided by Joana Melo  (Coimbra, Portugal)  
  15-W-
q13.3/
1-2		 female/
30y		 PBL de novo 47,XX,+mar[100%] inv dup(15)(q13.3)
break around 27.4MB		 SNRPN, UBE3A and MLPA; UPD-test at 30 years: autism, severe MR, seizures {282}case 1  
  15-W-
q13.3/
2-1		 male/
6y		 PBL de novo 47,XY,+mar[100%] inv dup(15)(pter→q13.3:
:q13.2→pter)
breaks 28.90 and 30.23 MB		 aCGH abnormal phenotype; BWS - abnormal methylation in LIT1 {297}case 10  
  15-W-
q13.3/
3-1		 female/
postnatal		 PBL de novo 47,XY,+mar[100%] inv dup(15)(pter→q13.3:
:q13.2→pter)
breaks 28.24 and 30.70 MB		 aCGH abnormal phenotype; psychomotor delay {0} provided by Dr.Maria Isabel Melaragno, Sao Paolo, Brazil  
  15-W-
q13.3/
3-2		 male/
newborn		 PBL
buccal mucosa		 de novo 47,XY,+mar[100%]
buccal mucosa mar in 12%		 inv dup(15)(pter→q13.3:
:q13.2→pter)
breaks 28.17 and 30.30 MB		 aCGH, FISH; UPD-test abnormal phenotype; psychomotor delay; twin pregnancy, second twin without sSMC, but also develop. delay {306}  
  15-W-
q14/
1-1		 male/
15y		 PBL de novo 47,XY,+mar[100%] inv dup(15)(q14) n.a.
Southern Blot		  see below {74}  
developmental delay since 6m of age; epilepsy at 1y; speech delay at 15y plus mental retardation
  15-W-
q14/
1-2		 male/
11y		 PBL de novo 47,XY,+mar[100%] inv dup(15)(q14)
 FISH-data: SNRPN at 22.8MB on sSMC		 PWS-specific probes; micro satellite analysis; UPD-test developmental delay plus mental retardation; muscular hypotonia, seizures;  {123} case E  
  15-W-
q14/
1-3		 male/
10y		 PBL de novo 47,XY,+mar[38]/
46,XY[12]		 inv dup(15)(q14)
 FISH-data: SNRPN at 22.8MB on sSMC		 PWS-specific probes; P-specific probe micro satellite analysis see below {151}  
severe psychomotor retardation; epilepsy, pigmentary dysplasia, born with left inguinal hernia and left knee dislocation; West syndrome at 8m; facial dysmorphism; muscular hypotonia, seizures; sensoneural deafness
  15-W-
q14/
1-4		 n.a./
n.a.		 PBL de novo 47,+mar[100%] inv dup(15)(q14)
 FISH-data: SNRPN at 22.8MB on sSMC		 cen probes and SNRPN see below {160}  
hypomelanosis of Ito having mental, psychomotor and speech retardation, hypotonia and behavioral problems
  15-W-
q14/
1-5		 male/
15y		 PBL de novo 47,XY,+mar[100%] inv dup(15)(q14) RFLP analysis; UPD-test see below {201}  
normal at birth, at 6m birth head control was not complete, at 1 y epileptic attacks, at 15y brain computed tomography normal exept for slightly enlarged lateral cerbral fissures. extremeties rigid and flexed - not able to walk, delaed speech development.
  15-W-
q14/
1-6		 female/
prenatal		 AF de novo 47,XX,+mar[99%]/
46,XX[1%]		 inv dup(15)(q14)
 FISH-data:
pter to 28.4MB		 acrocenM, subcenM, SNRPN see below {298}case 6  
amniocentesis due to ultrasound abnormalities; termination of the pregnancy, no further information available
  15-W-
q14/
1-7		 male/
prenatal		 AF de novo 47,XY,+mar[100%] inv dup(15)(q14)
 FISH-data: UBE3A at 23.2MB on sSMC		 cenM, subcenM, D15Z1; UBE3A; PML Indication for amniocentesis maternal age. ultrasound was normal in week 28; TOP {0} provided by Dr. Snezana Brankovic, Belgrade, Serbia  
  15-W-
q14/
2-1		 female/
16m		 PBL de novo 47,XX,+mar[44]/
46,XX[156]		 r(15)(::p11.1→q14:
:q14→p11.1::)		 cep probes and locus specific probes as described in {204}; UPD-test see below {204}  
Child born after a pregnancy complicated by decreased fetal movement. Birth weight 7 lbs 4 oz; colicky (8 months) and occasionally provoked herself to vomit. no seizures. At 16m developmental delay and dysmorphic features, weight 9.2 kg (8th centile), length 75.2 (14th centile), head circumference 46.1 cm (25-50th centile). Significant microstomia and micrognathia, prominent forehead without bossing, mild synophrys, medial eye brow flare on the left, bluish sclerae, almond-shaped eyes, broad nasal root, short nose, thin upper lip, and an overbite; two hyperpigmented maculae, left palm only 5.4 cm (30th centile). Neurologic exam revealed vocalization, but no words and generalized hypotonia.
  15-W-
q14/
2-2		 female/
18y		 PBL de novo 47,XX,+mar[82%]/
46,XX[12%]		 r(15)(::p10→q14::)[4]/
r(15;15)(::p10→q14:
:p10→q14::)[6]
 FISH-data: SNRPN at 22.8MB on sSMC		 CGH, cenM, subcenM, SNRPN mental retardation {0} provided by Dr. Tönnies Berlin, Germany  
  15-W-
q14/
3-1		 female/
postnatal		 PBL de novo 48,XX,+2mar[29]/
47,XX,+mar[31]		 inv dup(15)(q14)x2
 FISH-data: UBE3A at 23.2MB on sSMC		 CGH, FISH with wcp 15, UBE3A, PML mental retardation {229}  
  15-W-
q14/
4-1		 female/
3m		 PBL
(EKF-
cellbank)		 de novo 47,XX,+mar[25%]/
46,XX[75%]		 der(15)(:q14→q13:
:q14→p11.1:
:p11.1→q14:
:q13→q14:)
 FISH-data: UBE3A at 23.2MB on sSMC		 cenM, subcenM UBE3A, PML; UPD-test (develop) mental retardation {0}  
  15-W-
q14/
5-1		 male/
newborn and at 3y		 PBL de novo 47,XY,+mar[?%]/
46,XY[?%]		 der(15)(:pter→q14:
:q15.3→q26.2:
:q26.2→q15.3:
:q11.1→pter:)
 FISH-and array-data: 18.37-36.19MB is once on the sSMC and 85.87-93.64MB is twice on sSMC
 sSMC derived from maternal chromosome 15		 M-FISH, array-CGH, BAC-FISH; UPD-test see below {276}   
dysmorphic features and developmental delay; during pregnancy hydrops fetalis; at birth: mild dysmorphism, hypotonia, bilateral clubfeet, at 40m: low weight, microcephaly, tall forehead, ptosis, deep-set ears, beaked nose, carp mouth, thin lips, mandibular retrognathia, high palate, low set ears, large fingers, muscular hypotonic.
  15-W-
q14/
6-1		 female/
11y		 PBL de novo 47,XX,+mar [12]/
46,XX[16]		 min(15)(pter→q14) * n.a. abnormal phenotype {297}
case 20		  
  15-W-
q14/
7-1		 female/
9y		 PBL de novo 49,XX,+marx31/ 47,XX,+mar[9]/
46,XX[10]		 der(15)(:q14→p1?2:
:p1?2→q14:)x3[1]/
der(15)(:q14→p1?2:
:p1?2→q14:)[2]/
del(15)(q14)[7]		 n.a. mental retardation {0}  
  15-W-
q21/
1-1		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] min(15)(pter→q21:)
 FISH-data: UBE3A at 23.2MB on sSMC		 cep probes, subcenM; UBE3A Advanced maternal age; child died intrauterine in week 23 {0} provided by Dr. Hickmann, Düsseldorf, Germany  
  15-W-
q21.2/
1-1		 female/
newborn		 PBL de novo 47,XX,+mar[100%] min(15)(pter→q21.2) SKY, BACs; UPD-test mental retardation, dysmorphic features {292}  
  15-W-
q21.3/
1-1		 male/
postnatal		 PBL de novo 47,XY,+mar[100%] min(15)(pter→q21.3) acrocenM, subcenM; MCB mental retardation {0} provided by Dr. Dilek Aktas, Ankara, Turkey  
  SPECIAL CASES  
  15-W-
q12
+15/
1-1		 male/
7y		 PBL de novo 48,XY,
+inv dup(15)(q15),
+inv dup(15)
(q12)[5]/
47,XY,+inv dup(15)
(q15)[13]/
 46,XY[7]		 n.a. n.a. see below {13}   
Birth weight 2891g; alternating strabismus and maxillary overbite; hyperactive, severely retarded; EEG showed diffuse disturbance of cerebral function.
  15-W-
q11
~q13/
1-1		 male/
19y		 PBL de novo 49,XY,+mar,
+r,+min[3]/
47-48,XY,
+mar,+r
or min[47]/
47,XY[15]		 inv dup(15)(q1?3)[1]/
r(15)(::q11.2→q13:
  :q13→q11.2::)[10]/
min(15)(pter→q11.1:)[10]/
min(15)(:q11.2→q13:)[9]/
min(15)(pter→q13::q13:)[5]/
min(15)(pter→q13:)[5]/
min(15)(pter→q12)[2]*		 cep 15;
p15(15p11)
yIR-39d(15q11.2)
P1(770C6)(15q112~12)
cos127(PWACR)		 see below {113}  
At birth weight at 3. centile; OFC and length not recorded; delayed psychomotor development, seizures between 14y and 17y of age; at 19y moderate mental retardation, brachycephaly, wide forehead, long face, scarce eyebrows, prominent nose with left deviation of septum, low-set cupped ears, molar hypoplasia, short philtrum, anterior cross bite, thick lower lip, micrognathia, high arched palate, short neck, widely spaced nipples, kyphoscoliosis, hyper extensible elbows, slender hands with wired fingers, calcaneovalgus deformity, gena recurvata
  15-W-
div
1-44		 male or female/
postnatal		 PBL de novo
(exception cases A14; B10)		 47,+idic(15)[100%]
(mosaic with normal cells in cases A2, A7, A28 (1 and 2 mar), A29,  B3, B10 mother and in B9 2 mar),		 inv dup(15); all cases have been shown to be non-symmetric derivative chromosomes YAC probes specific for centromere-near 15q to 15q13, micro satellite analysis; UPD-test not nearer specified clinical symptoms in all cases see below  
{39} all cases apart from A15 and A16; cases A2, A6, A28, B6 and B2 are described in {40} cases 3, 4, 1, 5, 2; A17 in {41}; 28 patients were studied in {198}
  15-W-
div
45-49		 male or female/
postnatal		 PBL de novo
(?)		 47,+idic(15)[100%] inv dup(15) different FISH probes specific for centromere-near 15q to 15q13 not nearer specified clinical symptoms in all cases {198} cases A33, B15, B16, B17 B18  
                     

 

 

W-Cases with similar imbalances NOT caused by sSMC (W-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-W-
IMB-
q11.1/
1-1 to
 1-3		 3 case with partial centromere-near trisomy 15q are summarized in Ref {232}

See also {266}

 {232}  
  15-W-
IMB-
q11.1/
1-4		 1 case with partial centromere-near trisomy 15q {88}  
  15-W-
IMB-
q11.1/
1-5		 1 case with partial centromere-near trisomy 15q {231}case 12  
  15-W-
IMB-
q11.1/
1-6		 1 case with partial centromere-near trisomy 15q

 

 {246} case G  
  15-W-
IMB-
q13/
2-1-mult		 cases with partial centromere-near tetraomy 15q

 

 {267}  
                   

 

W-cases with unclear/insufficient characterization of the sSMC itself (CW)

 

                     
  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-
CW-1		 female/
31y		 PBL
cell line at ECACC DD1596		 de novo 47,XX,+r[12]/
46,XX[18]		 r(15).ish (SNRPNx1; GABRB3x2) cep 15; GABRB3, D15S11; SNRPN; micro satellite analysis; UPD-test  early milestones normal, speech delayed, no recognizable word up to 7y, destructive behavior up to 5yheight <3rd centile, HC 10.-25. centile {40} case 6  
  15-
CW-2		 moved to 15-N-qt2?4/1-1 {31} case 3  
  15-
CW-3		 female/
14y		 PBL de novo 47,XX,+mar[100%] der(15)t(15;?)(q24;?) all available centromeric probes; wcp 15,X,Y,8,12, 14,19,22 see below {35} case 27  
aggressive behavior, concentration and learning disabilities, prominent nose, small mouth, broad neck, small thorax, funnel chest, cubitus valgus, diffuse hyper pigmentation 
  15-
CW-4		 n.a./
postnatal		 PBL de novo 47,+mar[?%]/
46[?%]		 inv dup(15)
 SNRPN not present		 cep15; wcp 15, SNRPN chorio-retinian and iris coloboma {211} case 2  
  15-
CW-5		 female/
6y		 PBL n.a. 47,XX,+mar[100?%] mar(15) M-FISH and wcp 15 ambiguous genitalia, bilateral ing. hernia, small uterus, fibrotic ovary, all hormones in female category {0}  see below  
provided by Dr. Hema Purandarey, Piramal Diagnostics, Center for Genetic Health Care, Mumbai with acknowledgement to Dr. Sonal R. Bakshi, Institute of Science, Nirma University, Ahmedabad
  15-
CW-6		 female/
12y		 PBL n.a: 47,XX,+mar[100%] min(15) SKY short stature {311} case F0554133  
  15-
CW-7		 female/
12y		 PBL n.a: 47,XX,+r[100%] r(15) SKY n.a. {311} case F0621647  
                     

 

 

CW-cases without (listing of) extensive details on the cases (CWw)

 

         
  case no.  clinical symptoms; sSMC shape reference  
  15-CWw-1 hydrocephalus; 1x inv dup

{12} case 20

  
  15-CWw-2 abnormal phenotype; 1x inv dup

{32; 33; 34} case 6 = case 17 of {71}

  
  15-CWw-3 abnormal phenotype; 1x inv dup

{15} case 33

  
  15-CWw-4 abnormal phenotype; mar not specified

{43} case 2

  
  15-CWw-5 to 15-CWw-6 abnormal phenotype; 2x inv dup

{40} cases 7, 14 = {51} cases JC7; JC14

  
  15-CWw-7 to 15-CWw-15 abnormal phenotype; 1 x r, 8 x inv dup

{48} 9 cases (mental retardation 8x, intrauterine death 1x)

  
  15-CWw-16 to 15-CMw-18 abnormal phenotype; 3x mar

{28} cases 1-3

  
  15-CWw-19 to 15-CWw-43 25 cases with mental retardation; 25x inv dup

{50} 25 cases 

  
  15-CWw-44 to 15-CWw-45 abnormal phenotype; 2x inv dup

{51} cases DL5, DL9

  
  15-CWw-46  abnormal phenotype; 1x inv dup

{65} cases 3

  
  15-CWw-47 abnormal phenotype; 1x inv dup

{70}

  
  15-CWw-48 to CWw-62 abnormal phenotype 12x inv dup

{71} cases      1/2/3/6/ 7/8/12/13/14/15/21/22/23/24/25; 
{102} cases   20/--/8/ 5/ 9/10/--/  12/13/ 14 / 1/--/ 19/ 4/--
{71} case 21 used as case 3 in {101} 

  
  15-CWw-63 abnormal phenotype; 1x inv dup - FAMILIAL !!

{95}

  
  15-CWw-64 abnormal phenotype;  inv dup - FAMILIAL !!; mother normal Mosaic; SNRPN included!

{203}

  
  15-CWw-65 to 15-CWw-66 abnormal phenotype; 2x inv dup

{97} cases 1 and 2

  
  15-CWw-67 to 15-CWw-68 abnormal phenotype; 2x inv dup

{99} cases 23 and 41

  
  15-CWw-69 to 15-CWw-72 abnormal phenotype; 4x inv dup

{102} cases 6, 7, 15, 18
{101} cases -, -, 3, -

  
  15-CWw-73 abnormal phenotype; 1x inv dup

{104}

  
  15-CWw-74 to 15-CWw-77 abnormal phenotype; mar not specified

{105} cases 3-6-7; 18

  
  15-CWw-78 abnormal phenotype; 1x inv dup

{114}

  
  15-CWw-79 abnormal phenotype; 1x inv dup

{126}

  
  15-CWw-80 abnormal phenotype; 1x inv dup

{132}

  
  15-CWw-81 to 15-CWw-82 abnormal phenotype; 2x inv dup

{133} cases 1-2; {223} case 3

  
  15-CWw-83 to 15-CWw-85 abnormal phenotype; 3x inv dup

{139} cases 1-3

  
  15-CWw-86 abnormal phenotype; inv dup - q13 involved

{106}

  
  15-CWw-87 to 15-CWw-91 abnormal phenotype; 5x inv dup

{137}

  
  15-CWw-92 to 15-CWw-94 abnormal phenotype; 3x inv dup

{141} cases 1-3

  
  15-CWw-95 abnormal phenotype; 1x inv dup

{142} case 1

  
  15-CWw-96 to 15-CWw-99 abnormal phenotype; 4x inv dup

{143} cases 1-4

  
  15-CWw-100 abnormal phenotype; inv dup incl SNRPN

{170}

  
  15-CWw-101 abnormal phenotype; inv dup incl SNRPN

{148}

  
  15-CWw-102 abnormal phenotype; inv dup incl SNRPN, 2x inv dup

{149}

  
  15-CWw-103 abnormal phenotype; inv dup (TOP)

{153}

  
  15-CWw-104 abnormal phenotype; inv dup 

{159}

  
  15-CWw-105 to 15-CWw-106 moved to 15-W-q13/6-2 and 6-3

{165}

  
  15-CWw-107 to 15-CWw-108 abnormal phenotype; double inv dups 

{171}

  
  15-CWw-109 abnormal phenotype; inv dup

{174}

  
  15-CWw-110 to 15-CMw-111 abnormal phenotype; inv dup x2

{176}

  
  15-CWw-112 to 15-CMw-119 abnormal phenotype; 2x inv dup x2, 6x mar

{178} 8 cases

  
  15-CWw-120 abnormal phenotype; inv dup - q13 involved

{182}one twin with mar - other not

  
  15-CWw-121 abnormal phenotype; inv dup - q13 involved

{183} case 4

  
  15-CWw-122 abnormal phenotype; inv dup

{196} 1 case

  
  15-CWw-123 to 15-CMw-127 abnormal phenotype; inv dup - q13 involved

{199} cases 5-9

  
  15-CWw-128 abnormal phenotype; inv dup incl SNRPN

{0} provided by Dr. I. Iourov, Moscow, Russian Federation

  
  15-CWw-129 - ECACC CI0001 abnormal phenotype; inv dup incl SNRPN

{206} case 12

  
  15-CWw-130 abnormal phenotype; inv dup excl. SNRPN

{207} case 6

  
  15-CWw-131 abnormal phenotype; inv dup  incl SNRPN

{208} case 1

  
  15-CWw-132 to 15-CMw-133 abnormal phenotype; 2x mar  incl SNRPN

{209} cases 10, 14

  
  15-CWw-134 to 15-CMw-139 abnormal phenotype; 6x mar  incl SNRPN

{210} cases 1-5, 14

  
  15-CWw-140 abnormal phenotype; 1 x inv dup

{32; 33; 34} case 6

  
  15-CWw-141 to 15-CWw-142 abnormal phenotype; 2 x inv dup

{33; 34} cases 12-13; {71} cases 18-19; {102} cases 2 and n.a.

  
  15-CWw-143 abnormal phenotype; 1 x mar

{43} case 1

  
  15-CWw-144 abnormal phenotype; 1x inv dup

{74}

  
  15-CWw-145 abnormal phenotype; 1x inv dup

{86}

  
  15-CWw-146 abnormal phenotype; 1x  min

{92}

  
  15-CWw-147 abnormal phenotype; 1x inv dup incl SNRPN

{0} provided by J Anderson, Brisbane, Australia

  
  15-CWw-148 abnormal phenotype; 1x inv dup incl SNRPN Array-CGH: 0.00-26.01 MB

{0} provided by Drs. Wagner and Stibbe, Hannover, Germany

  
  15-CWw-149  to 15-CWw-166 ? abnormal phenotype; 18 inv dup ?  incl SNRPN

{213} 18 cases - no details listed at all - maybe already mentioned on this page

  
  15-CWw-167 abnormal phenotype; 1 inv dup incl SNRPN

{217} case2

  
  15-CWw-168 abnormal phenotype; 1 inv dup incl SNRPN

{226}

  
  15-CWw-169 abnormal phenotype; 1 inv dup incl SNRPN

{235}

  
  15-CWw-170  to 15-CWw-173 abnormal phenotype; 4 inv dup incl SNRPN

{237} 4 cases

  
  15-CWw-174 abnormal phenotype, mar

{255} 1 case

  
  15-CWw-175 abnormal phenotype; 1 inv dup incl SNRPN

{256} case 16

  
  15-CWw-176 abnormal phenotype, mar

{256} case 14

  
  15-CWw-177 to 15-CWw-178 abnormal phenotype; 1 inv dup, 1 min

{262} 2 cases

  
  15-CWw-179 abnormal phenotype, inv dup

{264} 1 case

  
  15-CWw-180 terminated, large inv dup

{272} case 10

  
  15-CWw-181 inv dup incl SNRPN

{273} 1 case

  
  15-CWw-182 abnormal phenotype; mar

{275} 1 case

  
  15-CWw-183 inv dup, abnormal phenotype incl SNRPN

{277}  case 12

  
  15-CWw-184 inv dup incl SNRPN; MR; Array-CGH: 0.00-25.92 MB

{0} provided by J Melo, Coimbra, Portugal

  
  15-CWw-185 inv dup incl SNRPN

{0} provided by Aqualab, Serbia

  
  15-CWw-186 inv dup

{280} 1 case

  
  15-CWw-187 to 15-CWw-189 3x inv dup incl SNRPN

{281} 3 cases

  
  15-CWw-190 inv dup incl SNRPN

{284} 1 case i.e. monocygotic twins

  
  15-CWw-191 inv dup incl SNRPN

{0} provided by Dr. Sagi, Jerusalem, Israel

  
  15-CWw-192 inv dup incl SNRPN

{0} provided by Dr. Iourov, Moscow, Russia

  
  15-CWw-193 inv dup incl SNRPN

{0} provided by Dr. Fuchs, Hamburg, Germany

  
  15-CWw-194 to 15-CWw-198 5x inv dup

{301} 5 cases

  
  15-CWw-199 inv dup incl SNRPN

{0}