FISH

SMALL SUPERNUMERARY MARKER CHROMOSOMES

- sSMC 15 -

 

References

Cases without clinical findings (O)

 

                     
  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-O-
q10/
1-1		 male/
prenatal		 CH de novo 47,XY,+mar[10] inv dup(15)(q10) M-FISH; cenM;
subcenM; UPD-test		 Amniocentesis due to advanced  maternal age;  no ultrasound abnormalities; child born without clinical signs {1} case 21  
  15-O-
q10/
1-2
to 3		 male/
20y and 28y		 PBL de novo 47,XY,+mar[100%] inv dup(15)(q10)* YAC probes as specified in {57}; UPD-test normal males ascertained because of history of spontaneous abortions or prenatal screening because of advanced maternal age {57} cases 15, 16
{253} case 46		  
  15-O-
q10/
1-4		 male/
adult		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q10) acro-cenM;
subcenM		 cytogenetic study due to the fact that no children came in partnership {170}
{184}case 15-84
 {256} case 18		  
  15-O-
q10/
1-5		 male/
prenatal		 AF maternal 47,XY,+mar[100%] inv dup(15)(q10) cenM;
subcenM		 Amniocentesis due to advanced  maternal age; no clinical signs in born child or mother {184}case 15-85  
  15-O-
q10/
1-6		 female/
adult		 PBL n.a. 47,XX,+mar[100%] inv dup(15)(q10) acro-cenM clinically normal adult female; 14y old son with obesity and developmental delay {184}case 15-86  
  15-O-
q10/
1-7		 male/
prenatal		 AF
(EKF-
cellbank)		 n.a. 47,XY,+mar[100%] inv dup(15)(q10) cep probes
subcenM
SNRPN		 advanced maternal age, healthy child born {0} provided by Drs. Prager/ Junge, Dresden, Germany  
  15-O-
q10/
1-8		 n.a./
prenatal		 AF de novo 47,+mar[20]/
46[20]		 inv dup(15)(q10) cep probes
wcp 15		 Amniocentesis due to advanced  maternal age; no clinical signs in born child at 3y {199} case 1  
  15-O-
q10/
1-9		 n.a./
prenatal		 AF maternal 47,+mar[100%] inv dup(15)(q10) cep probes
wcp 15		 Amniocentesis due to advanced  maternal age; no clinical signs in born child at 5y,  mother normal, too {199} case 2  
  15-O-
q10/
1-10		 male/
adult		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q10) cep probes
wcp 15		 Detected due to amniocentesis in partner - child with 48,+21,.mar. {199} father of case 3  
  15-O-
q10/
1-11		 male/
prenatal		 AF maternal 47,XY,+mar[100%] inv dup(15)(q10) acrocenM;
subcenM		 mother normal, sonography of unborn child normal {} provided by Dr. Zivi Borochowitz; Israel  
  15-O-
q10/
2-1		 male/
adult		 PBL
cell line at ECACC DD1316		 maternal 47,XY,+mar dic(15)(pter→cen:
:cen→p11)		  cep 15; GABRB3, D15S11; SNRPN; UPD-test mar detected due to amniocentesis in partner of this male; male and his mother normal; pregnancy continued {40} case 17 {51} case JC17   
  15-O-
q10/
3-1		 n.a./
prenatal		 chord blood de novo 47,+mar[33]/
46[8]		 min(15)(pter→q10)* cep probes
wcp 15		 Amniocentesis due to advanced  maternal age; no clinical signs in born child at 2y {199} case 4  
  15-O-
q10/
4-1		 see 13/21-O-q10/5-1 {180} case 6  
  15-O-
q11/
1-1		 male/
prenatal		 AF
(EKF-
cellbank)		 de novo 47,XY,+mar[20]/
46,XY[80]		 inv dup(15)(q11) cenM Amniocentesis due to advanced  maternal age; no clinical signs in born child - no signs as well at age of 14 months {3} case 7
{4} case 7		  
  15-O-
q11/
1-2		 female/
prenatal		 AF paternal 47,XX,+mar[23]/
46,XX[1]		 inv dup(15)(q11) cenM Amniocentesis due to advanced  maternal age; no ultrasound abnormalities; marker in father and sister; child born without any clinical signs {0} provided by Dr. I.  Bartels,
Göttingen, Germany		  
  15-O-'
q11/
1-3		 n.a./
prenatal		 AF paternal n.a. inv dup(15)(q11) acro M Amniocentesis due to advanced  maternal age; father normal {27} case 2  
  15-O
-q11/
1-4		 female/
1m		 PBL de novo 47,XX,+mar[23%]/
46,XX[77%]		 inv dup(15)(q11)* all available centromeric probes normal at age of 21 {29} case 348  
  15-O
-q11/
1-5		 female/
1d		 PBL maternal 47,XX,+mar[100%] inv dup(15)(q11)* all available centromeric probes died 3.5 hours after birth - no dysmorphic features; mother normal {29} case 6013  
  15-O
-q11/
1-6		 male/
1m		 PBL de novo 47,XY,+mar[~55%]/
46,XY[~45%]		 inv dup(15)(q11)* all available centromeric probes normal at age of 5y {29} case 45604  
  15-O
-q11/
1-7
to 10		 male/ female
2x each/
prenatal/
postnatal		 AF/PBL paternal/
maternal
x2/
de novo		 47,+mar[100%] inv dup(15)(q11) all available centromeric probes normal at age of 9y, 21m or after birth (2x) {35} cases 15-18  
  15-O
-q11/
1-11
to 17		 male/ female
5/2/
prenatal		 AF/PBL familial
pat 4x,
mat 3x		 47,+mar[100%] inv dup(15)(q11) all available centromeric probes normal at birth; and/or parents normal {15} cases 26-32  
  15-O-
q11/
1-18
to 20		 male/ female
1/2/
adult		 PBL n.a. 47,+mar[100%] inv dup(15)(q11)   centromeric probe 15 and 6 single copy probes from 15q11 to 15q13; UPD-test normal, repeated miscarriage {47} cases GMO3666; GM04347{reported as well in 51} ; ID15-3
{253} case 47, 48, 49		  
  15-O-
q11/
1-21
to 25		 male/ female
1/4/
adult		 PBL paternal3x
 maternal1x
 de novo1x		 47,+mar[100%] inv dup(15)(q11)  cep 15; GABRB3, D15S11; SNRPN; UPD-test normal; Ref {40} case 8 with amenorrhea → infertility {40} cases 8, 10, 11, 12, 15 = {51} cases JC8, JC10; -; JC12; -; JC15
{253} case 50; - 51, -,-		  
  15-O-
q11/
1-26		 female/
32y		 PBL n.a. 47,XX,+mar[100%] inv dup(15)(q11) centromeric probes normal apart from unclear sterility in partnership {49} case 2
{253} case 52		  
  15-O-
q11/
1-27		 male/
prenatal		 AF maternal 47,XY,+inv dup(15)(q11)[100%]* n.a. n.a. normal mother and child {62}
{71} case 5		  
  15-O-
q11/
1-28		 male/
prenatal		 AF maternal 47,XY,+mar inv dup(15)(q11) centromeric probes, SNRPN; UPD-test normal mother and child {180} case 17  
  15-O-
q11/
1-29		 male/
postnatal		 PBL n.a. 47,XY,+mar inv dup(15)(q11) centromeric probes, SNRPN; UPD-test normal father; sSMC in unborn child; no info on child available {180} case 18  
  15-O-
q11/
1-30		 male/
postnatal		 PBL n.a. 47,XY,+mar inv dup(15)(q11) n.a. normal father; sSMC in unborn child; no info on child available {197} case listed in Table 3 - no individual number  
  15-O-
q11/
1-31		 male/
postnatal		 PBL n.a. 47,XY,+mar inv dup(15)(q11) n.a. normal male - infertility problem {205} 1 case,  no individual number
 {253} case 53		  
  15-O-
q11/
1-32		 female/
prenatal		 AF de novo 47,XX,+mar[100%] inv dup(15)(q11) wcp 15, PWS/AS-region probe Amniocentesis due to elevated maternal serum; normal child born {208} case 2  
  15-O-
q11/
1-33		 female/
29y		 PBL paternal 47,XX,+mar[100%] inv dup(15)(q11) midi repeated abortions {37} case 3
{253} case 54		  
  15-O-
q11/
1-34
to 35		 male/
adult		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11) cep probes ICSI patients {118} 2 cases
{253} case 55-56		  
  15-O-
q11/
1-36		 male/
adult		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11) DAPI detected due to sSMC in unborn child {139} father of case 6  
  15-O
-q11/
1-37		 male/
adult		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11) DAPI severe OAT {163} case C97/362
{253} case 57		  
  15-O
-q11/
1-38
to 39		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] inv dup(15)(q11) cep probes; UPD-test in one case normal at 6y and 3y {180} cases 4, 14  
  15-O-
q11/
1-40		 male/
29y		 PBL; sperm; embryos after IVF paternal 47,XY,+mar[100%] inv dup(15)(q11)* midi;
cep probes		 normal male with normozoospermia {271}  
  15-O-
q11/
1-41		 male/
28y		 PBL n.a. 47,XY,+mar[41]/
46,XY[9]		 inv dup(15)(q11)* cep; subcenM normal male with infertility {0} provided by Dr. Polityko, Minsk, Belarus  
  15-O-
q11/
1-42		 male/
41y		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11)* cep; subcenM normal male with infertility {0} provided by Dr. Polityko, Minsk, Belarus  
  15-O-
q11/
1-43		 male/
41y		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11)* cep; subcenM normal male with infertility {0} provided by Dr. Hehr, Regensburg, Germany  
  15-O-
q11/
2-1		 male/
27y		 PBL maternal
(mother
with one
mar in all cells)		 48,XY,+inv dup(15)(q11)x2[100%] n.a.  n.a. normal male studied due to 3 miscarriages of female partner  {54}
{253} case 58		  
  15-O-
q11/
2-2		 female/
40y		 PBL paternal
father
with one
sSMC only		 48,XX,+marx2[100%] 2x
inv dup(15)(q11)		 centromeric probes normal apart from unclear sterility in partnership {150} 
{253} case 59		  
  15-O-
q11/
2-3		 female/
32y		 PBL de novo 48,XX,+2mar[100%] 2x
inv dup(15)(q11)		 centromeric probes normal apart from unclear sterility in partnership {107}case 2
{253} case 60		  
  15-O-
q11/
3-1		 male/
prenatal		 AF familial
i.e. mother
and grand-
father with
inv dup(15)
(q11)*		 47,XY,+r[8]/
46,XY[12]
 mar in 20% of chord blood and 58% each in placenta and chord tissue		 r(15)(p11→q11)*  cep 15;  SNRPN Amniocentesis due to elevated maternal serum alpha fetoprotein and diabetes; pregnancy and delivery normal; child normal with 1y {77}  
  15-O-
q11/
4-1		 male/
39y		 PBL n.a. 47,XY,+mar[100%] min(15)(p11→q11) cenM; subcenM

normal male with infertility (sperm 5-8million/ml)

{208} case 3
{253} case 61

  
  15-O-
q11/
4-2		 female/
48y		 PBL
(EKF-
cellbank)		 n.a. 47,XX,+mar[100%] min(15)(p11→q11)  wcp 15 normal female

{0} provided by Dr. Kunze, Berlin, Germany

  
  15-O-
q11.1/
1-1		 female/
32y		 PBL n.a. 47,XX,+mar[?]/
46,XX[?]		 inv dup(15)(q11.1)  acro-cenM detected during  ICSI course; no clinical symptoms {184}case 15-121
 {253} case 62		  
  15-O-
q11.1/
1-2
to 4		 female and male2x/
prenatal		 AF de novo/ paternal1x 47,+mar[80% or 100%]/
46[20% or 0%]		 inv dup(15)(q11.1)  all available centromeric probes; UPD-test in cases 4 and 15 Amniocentesis due to advanced  maternal age or abnormal serum biochemistry; children normal at 9m, 6w or 13m {36} cases 4, 7, 15  
  15-O-
q11.1/
1-5		 male/
adult		 PBL n.a. 47,XY,+mar[100%]  inv dup(15)(q11.1)
acro-cenM		 Detected due to clinical abnormal 2y old son with psychomotor retardation - especially concerning the language due to dwarphism, minor cleft palate, microcephaly {184}case 15-125  
  15-O-
q11.1/
1-6		 female/
18y		 PBL n.a. 47,XX,+mar[100%]  inv dup(15)(q11.1)
acro-cenM		 clinically normal apart from 2 years of amenorrhea {184}case 15-126
 {253} case 63		  
  15-O-
q11.1/
1-7		 male/
36y		 PBL n.a. 47,XY,+mar[100%]  inv dup(15)(q11.1)
cep probes
subcenM		 clinically normal {0} provided by Dr. S. Neubauer, Nürnberg, Germany  
  15-O-
q11.1/
1-8		 female/
prenatal		 AF de novo 47,XX,+mar[99%]/
46,XX[1%]  		 inv dup(15)(q11.1)
acro-cenMs
subcenM; UPD-test		 child born clinically normal {0} provided by Drs. Schulze and Schmidt, Hannover, Germany  
  15-O-
q11.1/
1-9		 male/
prenatal		 AF n.a. 47,XY,+mar[mos]  inv dup(15)(q11.1)
cep probes
subcenM		 advanced  maternal age; no ultrasound abnormalities {0} provided by Dr. J. Vermeesch,
Leuven, Belgium		  
  15-O-
q11.1/
1-10		 female/
prenatal		 AF
(EKF-
cellbank)		 de novo 47,XX,+mar[30%]/
46,XX[70%]		 inv dup(15)(q11.1)
cenM, acro-cenM
subcenM; UPD-test		 advanced  maternal age; no ultrasound abnormalities; normal child born;  {0} provided by Dr. Pruggmeier,
Peine, Germany		  
  15-O-
q11.1/
1-11		 male/
15y		 PBL maternal (marker in mosaic) 47,XY,+mar[98%]/
46,XY[2%]		 inv dup(15)(q11.1)
acro-cenM
subcenM		 no symptoms in mother and child {0} provided by Dr. Küpferling,
Cottbus, Germany		  
  15-O-
q11.1/
1-12		 female/
adult		 PBL n.a. 47,XX,+mar[100%] inv dup(15)(q11.1)
acro-cenM
subcenM		 sSMC detected in normal mother due to a severely handicapped child with the same sSMC; reason for clinical symptoms in child not clear {256} case 13  
  15-O-
q11.1/
1-13		 female/
adult		 PBL n.a. 47,XX,+mar[100%] inv dup(15)(q11.1)
centromeric probes
subcenM; SNRPN-		 see below {0} provided by Dr. Mehnert,
Neu-Ulm, Germany		  
sSMC detected in normal mother due to monozygotic twin pregnancy: twin 1 with suspicious profile of the face (mouth was open) - was normal in next US; twin 2 normal (also marker chromosome in karyotype)
  15-O-
q11.1/
1-14		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.1)
cenM
subcenM		 normal child born {0} provided by Carme Fuster, Barcelona, Spain  
  15-O-
q11.1/
1-15		 female/
adult		 AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.1)
CGH, HR-CGH
subcenM		 normal female {0}provided by Carme Fuster, Barcelona, Spain  
  15-O-
q11.1/
1-16		 female/
adult		 PBL n.a. 47,XX,+mar[28%]/
46,XX[72%]		 inv dup(15)(q11.1)
centromeric probes subcenM		 normal female, child with sSMC abnormal nut no AS or PWS {0} provided by Dr. A. Dufke, Tübingen, Germany  
  15-O-
q11.1/
1-17		 female/
37y		 PBL n.a. 47,XX,+mar [100%] inv dup(15)(q11.1) centromeric probes subcenM, LSI UBE3A normal father; sSMC in unborn child; no info on child available {197} case listed in Table 3 - no individual number  
  15-O-
q11.1/
1-18		 male/
prenatal		 AF n.a. 47,XY,+mar [100%] inv dup(15)(q11.1) centromeric probes subcenM; UPD-test Amniocentesis due to advanced maternal age, child born by sectio; weight 3320g, length 50cm, OFC 35 cm, normal APGAR. No external malformations; child normal at 6m {0} case provided by Dr. Heilbronner,, Stuttgart, Germany  
  15-O-
q11.1/
1-19		 female/
prenatal		 CH maternal 47,XX,+mar [100%] inv dup(15)(q11.1) centromeric probes subcenM CVS due to advanced maternal age, marker present also in clinically normal mother {0} provided by Dr. Riegel, Zürich, Switzerland  
  15-O-
q11.1/
1-20		 male/
prenatal		 AF de novo 47,XY,+mar[60%]/
46,XY[40%]		 inv dup(15)(q11.1) centromeric probes subcenM Amniocentesis due to advanced maternal age, normal child born, normal at 1 month {298} case 1  
  15-O-
q11.1/
1-21		 female/
36y		 PBL
(EKF-
cellbank)		 n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) acrocenM subcenM Cytogenetics due to birth of a child with Down-syndrome like clinical signs and same sSMC {0} provided by Dr. Niemann, Overath, Germany  
  15-O-
q11.1/
1-22		 female/
prenatal		 AF
PBL
(EKF-
cellbank)		 maternal 47,XX,+mar[100%] inv dup(15)(q11.1) acrocenM subcenM Amniocentesis due to advanced maternal age, normal child born, normal at 6 month, mother normal, too {298}case 4  
  15-O-
q11.1/
1-23
to 26		 n.a./
prenatal		 AF de novo 47,+mar[?100%] inv dup(15)(q11.1) cep probes Amniocentesis due to advanced maternal age or other reasons, normal children born {48} 4 cases  
  15-O-
q11.1/
1-27
to 28		 n.a./
prenatal		 AF paternal 47,+mar[?100%] inv dup(15)(q11.1) cep probes Amniocentesis due to advanced maternal age or other reasons, normal children born {48} 2 cases  
  15-O-
q11.1/
1-29
to 31		 n.a./
prenatal		 AF maternal 47,+mar[?100%] inv dup(15)(q11.1) cep probes Amniocentesis due to advanced maternal age or other reasons, normal children born {48} 3 cases  
  15-O
-q11.1/
1-32
 to34		 n.a./
postnatal		 PBL de novo 47,+mar[?100%] inv dup(15)(q11.1) cep probes normal adults, studied to different reasons apart from infertility {48} 3 cases  
  15-O-
q11.1/
1-35
to 37		 male/
postnatal		 PBL 3x maternal 47,XY,+mar[?100%] inv dup(15)(q11.1) cep probes normal males with azoospermia {48}cases 1, 3, 4
{253} case 64-66		  
  15-O-
q11.1/
1-38		 male/
postnatal		 PBL paternal 47,XY,+mar[?100%] inv dup(15)(q11.1) cep probes normal male with OAT 3 and Seminoma {48}case 6
{253} case 67		  
  15-O-
q11.1/
1-39		 male/
postnatal		 PBL de novo 47,XY,+mar[?100%] inv dup(15)(q11.1) cep probes normal male with azoospermia {48}case 5
{253} case 68		  
  15-O-
q11.1/
1-40		 male/
adult		 PBL n.a. 47,XY,+mar[7]/
46,XY[3]		 inv dup(15)(q11.1) acrocenM, subcenM detected due to sSMC in unborn son {0} provided by Dr. Anna Polityko, Minsk, Belarus  
  15-O-
q11.1/
1-41		 male/
34y		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) cep probes, subcenM normal male with OAT syndrome {253} case 69  
  15-O-
q11.1/
1-42		 male/
41y		 PBL
sperm		 familial 47,XY,+mar[100%]
sSMC in 17.2% of sperm only		 inv dup(15)(q11.1) cep probes, SNRPN, PML normal male with OAT syndrome; sSMC and OAT syndrome in 38y old brother as well {214}
{253} case 70		  
  15-O-
q11.1/
1-43		 male/
prenatal		 AF maternal 47,XY,+mar[100%] inv dup(15)(q11.1) cep probes, subcenM; UPD-test amniocentesis due to advanced maternal age; mother normal {0} provided by Dr. Thiel, Berlin, Germany  
  15-O-
q11.1/
1-44		 male/
prenatal		 AF de novo 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM,
LSI UBE3A		 amniocentesis due to advanced maternal age (?); normal child born at term {0} provided by Drs. Soraya Reyno / Rina Bruzzone, Montevideo, Uruguay  
  15-O-
q11.1/
1-45		 female/
16y		 PBL n.a. 47,XX,+mar[52%]/
46,XX[48%]		 inv dup(15)(q11.1) acrocenM, subcenM, female with primary amenorrhea {253} case 71  
  15-O-
q11.1/
1-46		 female/
28y		 PBL n.a. 47,XX,+mar[23%]/
46,XX[77%]		 inv dup(15)(q11.1) cenM, subcenM  repeated abortions {253} case 72  
  15-O-
q11.1/
1-47		 male/
adult		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) cenM, subcenM normal male with fertility problems - prior ICSI {0} provided by Dr. Reyno, Montevideo,  Uruguay  
  15-O-
q11.1/
1-48		 female/
32y		 PBL n.a. 47,XX,+mar[4]/
46,XX[21]		 inv dup(15)(q11.1) cenM, subcenM normal female with fertility problems {0} provided by Jasen Anderson, Brisbane, Australia  
  15-O-
q11.1/
1-49		 male/
32y		 PBL n.a. 47,XY,+mar[64%]/
46,XY[36%]		 inv dup(15)(q11.1) cenM, subcenM normal male with fertility problems {0} provided by Dr. Polityko, Minsk, Belarus  
  15-O-
q11.1/
1-50		 male/
prenatal		 CH paternal 47,XY,+mar[?%]/
46,XY[?%]		 inv dup(15)(q11.1) cenM, subcenM pregnancy outcome not known - mother normal at 30y {256} case 21  
  15-O-
q11.1/
1-51		 male/
postnatal		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) cenM, subcenM normal male, repeated abortions in female partner {256}case 17  
  15-O-
q11.1/
1-52		 female/
postnatal		 PBL n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) cenM, subcenM adult - normal; studied due to pregnancy with enhanced nuchal translucency which turned out as Down syndrome {0} provided by Dr. Petersen, Athens, Greece  
  15-O-
q11.1/
1-53		 n.a./
prenatal		 AF n.a. 47,XY,+mar[85]/
46,XY[15]		 inv dup(15)(q11.1) cenM, subcenM; UPD-test advanced maternal age, normal child born {298} case 2  
  15-O-
q11.1/
1-54		 male/
prenatal		 AF n.a. 47,XY,+mar[16]/
46,XY[4]		 inv dup(15)(q11.1) cenM, subcenM advanced maternal age, normal child born - no follow-up data available {0} provided by Dr. Kistner, Schwerin, Germany  
  15-O-
q11.1/
1-55		 female/
37y		 PBL n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM normal female; unfulfilled wish for children {0} provided by Dr. Hehr, Regensburg, Germany  
  15-O-
q11.1/
1-56		 male/
32y		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM normal male; unfulfilled wish for children {0} provided by Dr. Petersen, Athens, Greece  
  15-O-
q11.1/
1-57		 male/
prenatal		 CH n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM Advanced maternal age, normal child born {0} provided by Dr. Duba, Linz, Austria  
  15-O-
q11.1/
1-58		 male/
43y		 CPBL n.a. 47,XY,+mar[26]/
46,XY[24]		 inv dup(15)(q11.1) acrocenM, subcenM Normal male, abortion with mar in partner {0} provided by Dr. Huhle, Leipzig, Germany  
  15-O-
q11.1/
1-59		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) cep probes, subcenM Advanced maternal age, normal child born {0} provided by Dr. Hickmann, Düsseldorf, Germany  
  15-O-
q11.1/
1-60		 male/
36y		 PBL n.a. 47,XY,t(3;12)(q21;q13.1),
+mar[100%]		 inv dup(15)(q11.1) acrocenM subcenM Advanced maternal age, mother normal {0} provided by Dr. Kunz, Berlin, Germany  
  15-O-
q11.1/
1-61		 female/
prenatal		 CH mat 47,XX,+mar[100%] inv dup(15)(q11.1) acrocenM subcenM normal male, fertility problems {0} provided by Dr. Kozlowski, Düsseldorf, Germany  
  15-O-
q11.1/
1-62		 male/
36y		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM subcenM normal male, fertility problems {0} provided by Dr. Schulze, Hannover, Germany  
  15-O-
q11.1/
1-63		 female/
prenatal		 AF familial 47,XX,+mar[83%]/
46,XX[17%]		 inv dup(15)(q11.1) cep probes
subcenM		 Amniocentesis due to advanced  maternal age; no clinical signs in born child or parents {0} provided by Dr. J. Vermeesch,
Leuven, Belgium		  
  15-O-
q11.1/
1-64		 male/
24y		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM; subcenM detected due to transsexual diagnostics {0} provided by Dr. Schreyer, Jena, Germany  
  15-O-
q11.1/
1-65		 female/
prenatal		 AF
(EKF-
cellbank)		 n.a. 47,XX,+mar[35]/
46,XX[20]		 inv dup(15)(q11.1) acrocenM; subcenM Amniocentesis due to advanced  maternal age; no clinical signs in born child at 6m {0} provided by Dr. Tittelbach, Nürnberg, Germany  
  15-O-
q11.1/
1-66		 male/
39y		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM; subcenM fertility problems, OAT syndrome {0} provided by Dr. Cremer, Düsseldorf, Germany  
  15-O-
q11.1/
1-67
to 68		 1 female
1 male/
adult		 PBL n.a. 47,+mar[100%] inv dup(15)(q11.1) acrocenM; subcenM normal male with fertility problems {0} provided by Dr. Polityko, Minsk, Belarus  
  15-O-
q11.1/
1-69		  male/
35y		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM; subcenM normal male with fertility problems {0} provided by Dr. Kowalska-Pawlak, Zabrze, Poland  
  15-O-
q11.1/
1-70		 female/
adult		 PBL n.a. 47,XX,+mar[14] inv dup(15)(q11.1) cep probes; subcenM normal female, detected ue to sSMC in unborn child {0} provided by Dr. Rubtsov, Novosibirsk, Russia  
  15-O-
q11.1/
1-71		 female/
42y		 PBL n.a.
transmitted sSMC to her fetus		 47,XX,+mar[100%] inv dup(15)(q11.1) cep probes; aCGH normal female, primary infertile {310} patient 3  
  15-O-
q11.1/
1-72		 male/
30y		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM; subcenM normal male, infertile {0} provided by Drs. Wagner, Stibbe, Hannover, Germany  
  15-O-
q11.1/
1-73		 male/
33y		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM; subcenM normal male,  tumor in family {0} provided by Dr. Borochowitz, Israel  
  15-O-
q11.1/
1-74		 male/
prenatal		 AF maternal
(mother has sSMC twice)		 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM; subcenM advanced maternal age, mother normal {0} provided by Dr. Huhle, Leipzig, Germany
  
  15-O-
q11.1/
1-75		 female/
36y		 PBL n.a. 47,XX,+mar[100%] inv dup(15)(q11.1)*
aCGH-data: no imbalance detected 
 cep 15, aCGH normal female with premature ovarian failure {314}  
  15-O-
q11.1/
2-1		 female/
29y		 PBL de novo 48,XX,+2mar[16]/
46,XX[4]		 2 x
inv dup(15)(q11.1)		 M-FISH;
cenM		 normal but own and familial tendency to abortion {3} case 6
{4} case 6
{253} case 73		  
  15-O-
q11.1/
2-2		 male/
adult		 PBL maternal 48,XY,+2mar[100%] 2 x
inv dup(15)(q11.1)		 M-FISH;
subcenM; CGH, HR-CGH; SNRPN-		 normal male with oligospermia; normal daughter with one inv dup(15)(q11.1) born {253} case 74  
  15-O-
q11.1/
2-3		 male/
adult		 PBL n.a. 48,XY,+2mar[100%] 2 x
inv dup(15)(q11.1)		 acrocenM; subcenM normal male with fertility problems {0} provided by Dr. Polityko, Minsk, Belarus  
  15-O-
q11.1/
3-1		 male/
50y		 PBL n.a. 47,XY,+mar1[37]/
47,XY,+mar2[13]		 inv dup(15)(q11.1)
min(15)(:p11.1→q11.1:)		  different FISH probes (D15Z1; SNRPN) phenotypically normal;  no clinical symptoms; SMC detected in amniocentesis of unborn child {5} case 1
{6} case 2		  
  15-O-
q11.1/
4-1		 moved  to 14-O-q11.2/1-1 {30} case 2  
  15-O-
q11.1/
5-1		 male/
35y		 PBL n.a. 47,XY,+mar[?%]/
46,XY[?%]		 r(15)
(::p1?2→q11.1::)		 cenM; subcenM severe OAT, cytogenetics prior ICSI {0} case provided by Dr. Duba, Linz, Austria  
  15-O-
q11.1/
6-1		 male/
38y		 PBL n.a. 47,XY,+mar[50%]/
46,XY[50%]		 min(15)(:p11.1→q11.1:) cenM; subcenM detected due to repeated abortions in female partner {0} provided by Dr. Petersen, Athens, Greece  
  15-O-
q11.1/
6-2		 male/
adult		 PBL n.a. 47,XY,+mar[100%] min(15)(pter or :p11.2→q11.1:) cenM; subcenM detected due to fertility problems {0} provided by Dr. Rodriguez, Spain  
  15-O-
q11.1/
6-3		 female/
prenatal		 AF mat. and grandmat. 47,XX,+mar[80%]/
46,XX[20%]		 min(15)(:p11.1→q11.1:)
 array-CGH: no imbalance detected		 acrocenM; subcenM;
array-CGH		 detected due to cerebellum hypoplasia; as SMC was found in healthy mother and grandmother this wa snot due to sSMC {0} provided by Dr. Miriam Guitart, Spain  
  15-O-
q11.1/
7-1		 female/
33y		 PBL n.a. 47,XX,+mar[11]/
46,XY[46]		 min(15)(:pter →q11.1:) sep probes subcenM normal female - MR unclear genesis in family {0} provided by Dr. Barbi, Ulm Germany  
  15-O-
q11.2/
1-1		 female/
prenatal		 AF de novo 47,XX,+mar[29]/
46,XX[4]		 inv dup(15)(q11.2)
 FISH-data:  RP11-307C10 at 20.6MB on sSMC		  acro-cenM;
subcenM		 Amniocentesis due to advanced  maternal age; no ultrasound abnormalities {184}case 15-15  
  15-O-
q11.2/
1-2		 female/
prenatal		 AF de novo 47,XX,+mar[24]/
46,XX[18]		 inv dup(15)(q11.2)  different FISH probes (D15Z1; D15S11); UPD-test Amniocentesis due to advanced  maternal age; child born without any clinical signs and normal at age of 1y  {6} case 1  
  15-O-
q11.2/
1-3		 female/
adult		 PBL n.a. 46,XX,trob(14;21),
+mar[100%]		 inv dup(15)(q11.2)  radioactive ISH with D15S9 normal female studied due to Down syndrome of a daughter in connection with the trob(14;21) {98}  
  15-O-
q11.2/
1-4		 male/
37y		 PBL familial 47,XY,+mar[100%] inv dup(15)(q11.2) DAPI normal but oligozoospermia {139} case 4
{253} case 76		  
  15-O-
q11.2/
1-5		 female/
24y		 PBL maternal
and grand paternal		 47,XX,+mar[100%] inv dup(15)(q11.2) DAPI normal but repeated abortions {139} case 4
{253} case 77		  
  15-O-
q11.2/
1-6		 male/
prenatal		 AF
(EKF-
cellbank)		 maternal 47,XY,+mar[?%]/
46,XY[?%]		 inv dup(15)(q11.2)
 FISH-data:  RP11-307C10 at 20.6MB on sSMC		 cep probes; subcenM normal child and 40 years old mother; sSMC detected due to amniocentesis in connection with advanced maternal age {0}  
  15-O-
q11.2/
1-7		 male/
41y		 PBL n.a. 47,XY,+mar[11]/
46,XY[39]		 inv dup(15)(q11.2)
 FISH-data:  RP11-307C10 at 20.6MB on sSMC		 acrocenM; subcenM normal male - repeated child death of newborn children in family {0} provided by Dr. Küpferling, Cottbus, Germany  
  15-O-
q11.2/
1-8		 male/
39y		 PBL
(EKF-
cellbank)		 n.a. 47,XY,+mar[100%] inv dup(15)(q11.2)
 FISH-data:  RP11-307C10 at 20.6MB on sSMC		 acrocenM; subcenM normal male - repeated abortions in partner, {0} provided by Dr. Petersen, Athens, Greece  
  15-O-
q11.2/
1-9		 female/
prenatal		 AF de novo 47,XX,+mar[58]/
46,XX[2]		 inv dup(15)(q11.2)
 FISH-data:  RP11-307C10 at 20.6MB on sSMC		 acrocenM; subcenM; UPD-test normal at birth and 4 months after birth {298} case 5  
  15-O-
q11.2/
1-10		 male/
30y		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.2)
 FISH-data:  RP11-307C10 at 20.6MB on sSMC		 acrocenM; subcenM normal male, OAT syndrome {0} provided by Dr. Cremer, Düsseldorf, Germany  
  15-O-
q11.2/
1-11		 male/
prenatal		 AF paternal 47,XY,+mar[100%] inv dup(15)(q11.2) MLPA father normal male {300} case 16  
  15-O-
q11.2/
1-12		 male/
prenatal		 AF maternal 47,XY,+mar[100%] inv dup(15)(q11.2) MLPA mother normal female {300} case 17  
  15-O-
q11.2/
1-13		 male/
43y		 PBL
(EKF-
cellbank)		 n.a. 47,XY,+mar[100%] inv dup(15)(q11.2)
 FISH-data:  RP11-307C10 at 20.6MB on sSMC; RP11-131I21 at 22.73Mb not on sSMC		 acrocenM; subcenM normal male, fertility problems, cryptozoospermia {0} provided by Dr. Huhle, Leipzig, Germany  
  15-O-
q11.2/
1-14		 n.a./
postnatal		 PBL maternal 47,+mar[100%] inv dup(15)(q11.2) cep, subcenM mother normal female {0} provided by Dr. Almeida, Montevideo, Uruguay  
   ***
 15-O-
q11.2/
1-15
  ***		 male/
39 and 47 y		 PBL/ sperm parental 47,XY+mar[100%]
in sperm sSMC in 30 or 37% present		 inv dup(15)(q11.2)aCGH: pter to 21.18 MB (hg18 recalculated) cep, FISH, aCGH normal males, brothers, one of them infertile {310} patients 1 and 2  
   ***
15-O-
q11.2/
2-1
***		 male/
prenatal		 AF de novo 47,XY,+mar[32]/
46,XY[3]		 min(15)
(:p13→q11.2:)
18.26-21.05 MB
(in array also positive due to crosshybridization: chr. 9: 44.90-69.22)		 midi
array-CGH		 Amniocentesis due to advanced  maternal age; child born without any clinical signs; routine lookups U1 to U3 were o.k. {0}
{184}case 15-17		  
  15-O-
q11.2/
2-2		 female/
prenatal		 AF paternal 47,XX,+mar[100%] min(15)(:p13→q1?1.2:)* .ish D15Z1+, wcp15+  different FISH probes (D15Z1; wcp15) Amniocentesis due to advanced  maternal age; child born without any clinical signs and normal at age of 2.5y ; father normal {7} case 1  
  15-O-
q11.2/
2-3		 male/
35y		 PBL n.a. 47,XY,+mar[133]/
46,XY[3]		 min(15)
(:p13→q11.2:)		 cep15; wcp15; D15S11; PML normal male; analysis due to 4 previous miscarriages of his wife; mar present in only ~6% of sperms {42}
{253} case 79		  
  15-O-
q11.2/
3-1		 female/
prenatal		 AF maternal 48,XX,+marx2 inv dup(15)
(q11.2)x2		  different FISH probes (cep 15; wcp 15; SNRPN) Amniocentesis due to abnormal MSAFP levels; no ultrasound abnormalities.  {14} 
case 1		  
  15-O-
q11.2/
3-2		 male/
36y		 PBL n.a. 48,XY,+inv dup(15)(q11.2)x2 n.a.  n.a. normal male studied due to 5y of infertility - oligoasthenospermia {56}
{253} case 78		  
  15-O-
q11.2/
3-3		 female/
24y		 PBL n.a. 48,XX,+mar,+mar[2]/
47,XX,+mar[19]/
46,XX[53] 		 inv dup(15)
(q11.2)x2/
inv dup(15)(q11.2)		 cenM, subcenM normal female studied due to fertility problems {0} provided by Dr.  Cremer, Düsseldorf, Germany  
  15-O-
q11.2/
4-1		 male/
47y		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(pter→q11.2:
:q11.1→pter)
+ NOR 5x at
one p-arm
 FISH-data:  RP11-307C10 at 20.6MB on sSMC		 cenM, subcenM, SNRPN- normal male; studied due to suspicion of neoplasia; autoimmunothrombopenia; no further information available {0} provided by Dr.  Schlegelberger, Hannover, Germany) and Dr. Brinkmann, Latzen, Germany  
  15-O-
q11.2/
5-1		 male/
adult		 PBL maternal
t(9;15)
(p24;q11.2)		 47,XY,+mar[100%] der(15)t(9;15)(p24;q11.2) n.a. normal male; studied due to repeated abortions in his wife and mar in unborn child; Same marker in normal brother {200}
{253} case 75 and 108		  
  15-O-
q11.2/
6-1		 female/
adult		 PBL n.a. 47,XX,+mar[100%] r(15)
(::p1?2→q11.2::)		 cenM, subcenM normal female; fertility problems {0} provided by Dr. Jiri Horacek, Czech  
  15-O-
q11.2/
7-1		 female/
20y		 PBL n.a. 47,XX,+mar[100%] r(15)
(::p11.1→q11.2::)		 cenM, subcenM normal female; sSMC detected already prenatally {0} provided by Dr. Achemann, Switzerland  
  15-O-
q11.2
~12/
1-1		 male/
32y		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.2~q12)  acro-cenM
subcenM		 primary sterility in the patient; normal {184}case 15-18
{253} case 80		  
  15-O-
q11.2
 ~12/
1-2		 female/
39y		 PBL
(EKF-
cellbank)		 n.a. 47,XX,+mar[87%]/
46,XX[13%]		 inv dup(15)(q11.2~q12)  centromeric probes
subcenM		 normal female, mar detected in unborn child; in child no ultrasound abnormalities and no UPD 15 (in unborn child): D15S822; D15S165; D15S659*, D15S818, D15S655*, D15S816. Normal child born. {216} case 8  
  15-O-
q11.2
 ~12/
1-3		 male/
24y		 PBL n.a. 47,XY,+mar[?100%] inv dup(15)(q11.2~q12) acrocenM
subcenM		 normal male, repeated abortions in female partner {253} case 81  
  15-O-
q11.2
~12/
1-4		 female/
prenatal		 AF de novo 47,XX,+mar[100%] inv dup(15)(q11.2~q12)
 FISH-data:  RP11-307C10 at 20.6MB on sSMC		 cenM
subcenM; SNRPN; UPD-test		 advanced maternal age, normal child born - no follow-up data available {0} provided by Dr. Kistner, Schwerin, Germany  
  15-O-
q11.2
~12/
1-5		 male/
prenatal		 AF n.a. 47,XY,+mar[?%] inv dup(15)(q11.2~q12)
 FISH-data:  RP11-307C10 at 20.6MB on sSMC		 cenM
subcenM; SNRPN; UPD-test		 mother was anxious --> thus cytogenetics was done and sSMC detected; normal child born, normal at 11 months {298} case 3  
  15-O-
q12/
1-1		 male/
adult		 PBL n.a. 47,XY,+mar[100%]/ inv dup(15)(q12)
 FISH-data:  RP11-307C10 at 20.6MB on sSMC		 cenM, subcenM, SNRPN normal male; fertility problems and early abortion in previous pregnancy of partner {0} provided by Dr. Dana Kantarská, Slovakia  
  15-O-
q12/
1-2		 female/
37y		 PBL n.a. 47,XX,+mar[100%]/ inv dup(15)(q12)
 FISH-data:  RP11-307C10 at 20.6MB on sSMC		 cenM, subcenM, SNRPN normal female; fertility problems {0} provided by Dr. Manvelyan, Armenia  
  15-O-
q13/
1-1		 female/
adult		 PBL n.a. 47,XX,+mar[18]/
46,XX[14]		 inv dup(15)(q13)
 FISH-data: SNRPN at 22.8MB on sSMC		 cep probes, SNRPN normal female; son with same sSMC but in 100% of blood cells abnormal {230}  
  15-O-
q13/
1-2		 male/
12y		 AF/
PBL		 de novo AF1: 47,XY,+mar[3]/
46,XY[10]
see below		 inv dup(15)(q13)
 FISH-data: SNRPN at 22.8MB on sSMC
 sSMC derived from maternal chromosome 15		 cep probes, GABRB3 normal male - last studied at 12 y {238}  
AF2: sSMC in 1/16 cells; PBL: at birth  in 13/50 cells; PBL: at 2y in 23/50 cells; PBL: at 4y in 18/50 cells
  15-O-
q13/
2-1		 female/
42y		 PBL n.a. 47,XX,+mar1[55]/
47,XX+mar2[26]/
46,XX[19]		 see below cenM, subcenM, SNRPN fertility problems, otherwise normal woman {0} provided by Jasen Anderson , Brisbane, Australia  
mar1: inv dup(15)(:p11.1→q12~13::q12~13→p11.1:); mar2: min(15)(:p11.1→q11.2:)[~30%]/
r(15)(::p11.1→q11.2::)[~40%]/r(15)(::p11.1→q12::)[~20%]  FISH-data: SNRPN at 22.8MB on sSMC
  15-O-
q13/
3-1		 female/
prenatal		 AF/ PBL/ fibroblasts de novo AF:
47,XX,+mar[3]/
46,XX[52]
mar in
PBL: 45%
fresh blood smear: 15%
Fibros: 25%
bucchal smear: 8%		 see below array CGH SNRPN; BAC-probes normal female at 2 years; initially amniocentesis due to enhanced nuchal translucency {278}  
inv dup(15)(pter→q13::q12→pter) array-data: SNRPN at 22.8MB on sSMC twice; until GABRB3 all present twice; 3 MB adjacent until BAC RP11-37J13 (29.5MB) present once on sSMC sSMC derived from paternal chromosome 15
  15-O-
q13.1/
1-1		 female/
prenatal		 AF maternal - mar in 10% of peripheral blood 47,XX,+mar[37]/
46,XX[10]		 r(15)
(::p11.2→q13.1::)
 FISH-data: SNRPN at 22.8MB on sSMC		 cenM, subcenM, SNRPN advanced maternal age -sonography normal, normal child born {0} provided by Dr. Sandig, Zwickau, Germany  
                     

 

 

 

O-Cases with similar imbalances NOT caused by sSMC (O-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-O
IMB-
q13/
1-1 to
1-22		 female and male/
adult		 PBL n.a. 46,dup(15)(q11q13) locus specific probes normal adult - transmitting duplication ( in pats including PWSCR) to in parts affected children {248}  
  15-O-
IMB-
q13/
1-1 to
1-3		 female and male/
adult		 PBL n.a. 46,dup(15)(q11q12) none normal individuals {249}see also {250-252}  
  15-O-
IMB-
q13/
1-4 to
1-10		 female and male/
adult		 PBL n.a. 46,dup(15)(q11q13) locus specific probes normal adult - transmitting duplication {296}  
                   

 

O-cases with unclear/insufficient characterization of the sSMC itself (CO)

 

                     
  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-CO-
1		 female/
25y		 PBL n.a. 47,XX,+mar[100%] dic(Y;15)*
presence of  2 alpha-cepY and cep15 signals; PCR prove of Yq11 euchromatic region (AZF1); absence of SRY region		 Yq-specific probes, cep Y, cep15; (PCR) infertility for 3 y; female  and husband normal {121}
{253} case 109		  
  15-CO-
2		 male/
33y		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.2~q13) SKY, cep15; PML, SNRPN normal male but infertility with  unilateral cryptorchidism, which was surgically repaired in childhood; a sperm analysis revealed oligospermia {186}
{253} case 82		  
  15-CO-
3		 n.a./
prenatal		 AF maternal 47,+mar[53]/
46[21]		 r(15) centromeric probes, wcp15 Amniocentesis due to advanced  maternal age; mother  normal, child normal at 3y {199}case 13  
  15-CO-
4		 male/
prenatal		 AF paternal 47,XY,+mar[100%] inv dup(15) centromeric probes Amniocentesis due to advanced  maternal age; father  normal, child normal at 5y {12}case 1; {15} case 26  
  15-CO-
5		 male/
prenatal		 AF paternal 47,XY,+mar[100%] inv dup(15) centromeric probes familial sSMC, child normal at 5y {12}case 2; {15} case 31  
  15-CO-
6		 female/
prenatal		 AF maternal 47,XX,+mar[?%]/
46,XX[?%]		 inv dup(15) centromeric probes Abnormal CVS, child normal at 2y {12}case 3; {15} case 24  
  15-CO-
7		 female/
prenatal		 AF paternal 47,XX,+mar[100%] inv dup(15) centromeric probes Amniocentesis due to advanced  maternal age; father  normal, child normal at 3m {12}case 5  
  15-CO-
8		 male/
prenatal		 AF paternal 47,XY,+mar[100%] inv dup(15) centromeric probes Amniocentesis due to anxiety; father  normal, hydrocele testis, otherwise child normal at birth {12}case 6; {15} case 27  
  15-CO-
9		 male/
prenatal		 AF maternal 47,XY,+mar[100%] inv dup(15) centromeric probes familial sSMC, child normal at 4-5y {12}case 9; {15} case 28  
  15-CO-
10		 female/
?adult		 skin fibroblasts paternal 47,XX,+mar[100%] inv dup(15) centromeric probes normal male and daughter {16} cases 1  
  15-CO-
11		 female/
prenatal		 AF maternal 47,XX,+mar[100%] inv dup(15) centromeric probes normal female and daughter; studied due to a Down syndrome in  prev. pregnancy {21} cases 3  
  15-CO-
12		 male/
prenatal		 AF maternal 47,XY,+mar[100%] min(15)* centromeric probes normal at birth {25} cases 9  
  15-CO-
13		 male/
prenatal		 AF paternal 47,XY,+mar[100%] inv dup(15) centromeric probes normal at birth {25} cases 10  
  15-CO-
14		 female/
prenatal		 AF paternal 47,XX,+mar[100%] inv dup(15) centromeric probes normal at birth {26} cases 7  
  15-CO-
15		 female/
prenatal		 AF de novo 47,XX,+mar[100%] inv dup(15) centromeric probes normal at birth {26} cases 9  
  15-CO-
16		 male/
prenatal		 AF de novo 47,XY,+mar[100%] inv dup(15) centromeric probes Amniocentesis due to advanced  maternal age; normal at 3m {32; 33; 34} case 2  
  15-CO-
17		 female/
prenatal		 AF maternal 47,XX,+mar[100%] inv dup(15) centromeric probes Amniocentesis due to advanced  maternal age; normal at birth {32; 33; 34} case 3  
  15-CO-
18		 female/
prenatal		 AF maternal 47,XX,+mar[100%] inv dup(15) centromeric probes Amniocentesis due to advanced  maternal age and spontaneous abortions; normal at birth {32; 33; 34} case 4  
  15-CO-
19		 male/
prenatal		 AF maternal 47,XY,+mar[100%] inv dup(15) centromeric probes Amniocentesis due to advanced  maternal age and spontaneous abortions; normal at birth {32; 33; 34} case 5; {71} case 16  
  15-CO-
20		 female/
prenatal		 AF de novo 47,XX,+mar[9]/
46,XX[6]		 inv dup(15) centromeric probes Amniocentesis due to advanced  maternal age and spontaneous abortions; normal at birth {32; 33; 34} case 7  
  15-CO-
21		 female/
prenatal		 AF maternal
15% of cells with sSMC		 47,XX,+mar[65%]/
46,XX[35%]		 mar(15) centromeric probes mother normal. child  normal at 3y {15} case 24  
  15-CO-
22		 male/
prenatal		 AF/ chord blood de novo 47,XY,+mar[10%]/
46,XY[90%] in chord blood in 3%		 mar(15) centromeric probes normal at birth {15} case 25  
  15-CO-
23		 female/
prenatal		 AF paternal 47,XX,+mar[100%] inv dup(15) centromeric probes normal {40} cases 9 {51} cases JC9  
  15-CO-
24		 male/
34y		 PBL n.a. 47,XY,+mar[100%] min(15) centromeric probes normal; repeated abortions in partnership {40} cases 13
{253} case 83		  
  15-CO-
25		 male/
prenatal		 AF n.a. 47,XY,+mar[60%]/
46,XY[10%]		 min(15) centromeric probes Amniocentesis due to advanced  maternal age; normal at 6m {40} cases 16  
  15-CO-
26		 female/
adult		 PBL paternal 48,XX,+marx2[22%]/
47,XX,+mar[61%]/
46,XX[17%]		 inv dup(15) centromeric probes normal female {51} cases DL 1  
  15-CO-
27 to 29		 male/
adult		 PBL paternal 47,XY,+mar[100%] inv dup(15) centromeric probes normal males {51} cases DL 2-3, 6  
  15-CO-
30		 female/
adult		 PBL maternal 47,XX,+mar[100%] inv dup(15) centromeric probes normal mother; child with slight MR {51} cases DL 5  
  15-CO-
31 to 32		 male/
prenatal		 AF de novo 47,XY,+mar[100%] inv dup(15) centromeric probes normal male {51} cases DL 4, 7; DL4 = case in {52}  
  15-CO-
33		 male/
prenatal		 AF paternal 47,XY,+mar[100%] inv dup(15) centromeric probes father, normal male; TOP {65} case 1  
  15-CO-
34 to 36		 2x male/ 1x female/
prenatal
or adult		 AF/ PBL n.a. 47,+mar[100%] inv dup(15) centromeric probes normal males or females {71} cases      4/10/20
case 4  used as case 2 in {101}		  
  15-CO-37 n.a./
adult		  PBL maternal 47,+mar[?%]/
46[?%]		 min(15) centromeric probes normal males or females {93}  
  15-CO-
38		 n.a./
n.a.		  PBL n.a. 47,+mar[?%]/
46[?%]		 min(15) centromeric probes normal {96}  
  15-CO-
39		 female/
prenatal		 AF paternal, grand paternal 47,XX,+mar[100%] inv dup(15) centromeric probes Amniocentesis due to advanced  maternal age; all members of family normal ; Question of associated malignancy {100}  
  15-CO-
40 to 41		 female and male/
adult		 PBL de novo 47,+mar[100%] inv dup(15) centromeric probes Population and family survey {105}cases 1, 5  
  15-CO-
42		 female/
prenatal		 AF maternal 47,XX,+mar[100%] inv dup(15) centromeric probes normal {105}case 2  
  15-CO-
43		 male/
prenatal		 AF maternal 47,XY,+mar[100%] inv dup(15) centromeric probes normal {105}case 4  
  15-CO-
44		 n.a./
n.a.		 n.a. n.a. 47,+mar[100%] mar(15) PRINS normal {108}case 3  
  15-CO-
45 to 46		 female (1x) and male (1x)/
prenatal		 AF familial 47,+mar[100%] inv dup(15)(?q12)* centromeric probes, wcp 15 normal at birth and /or normal parents {133} 2 cases
{134} 2 cases
{323} cases 1,2		  
  15-CO-
47		 male/
postnatal		 PBL n.a. 47,XY,+mar[?100%] mar(15) n.a. infertility {217} cases 1
{253} case 84		  
  15-CO-
48		 n.a./
prenatal		 AF de novo 47,+mar[100%] inv dup(15) DAPI-stain normal at birth and at 1 y {136} case 2  
  15-CO-
49		 male/
adult		 PBL n.a. 47,XY,+mar[100%] min(15) cep probes normal father of reported patient in {138} {138}  
  15-CO-
50		 n.a./
n.a.		 n.a. n.a. 47,+mar[100%] inv dup(15) cep probes normal {157}  
  15-CO-
51		 female/
n.a.		 n.a. paternal 47,XX,+mar[45%]/
46,XX[55%]		 mar(15) wcp probes normal {209} case 1  
  15-CO-
52		 female/
n.a.		 n.a. maternal 47,XX,+mar[100%] mar(15) wcp probes normal {209} case 16  
  15-CO-
53		 male/
prenatal		 AF de novo 47,XY,+mar[100%] mar(15) wcp probes; UPD-test Advanced maternal age; normal {210} case 6  
  15-CO-
54		 female/
prenatal		 AF de novo 47,XX,+mar[10]/
46,XX[6]		 mar(15) wcp probes; UPD-test Advanced maternal age; normal at 2m {210} case 8  
  15-CO-
55 to 56		 female/
prenatal		 AF de novo 47,XX,+mar[100%] mar(15) wcp probes; UPD-test Advanced maternal age; normal at birth {210} cases 10, 16  
  15-CO-
57 to 58		 male/
prenatal		 AF 2x maternal 47,XY,+mar[100%] mar(15) wcp probes; UPD-test Advanced maternal age; normal at birth or 18m {210} cases 21, 22  
  15-CO-
59 to 60		 male/
prenatal		 AF 2x paternal 47,XY,+mar[100%] mar(15) wcp probes; UPD-test Advanced maternal age; normal at birth {210} cases 23, 24  
  15-CO-
61 to 62		 male/
prenatal		 AF 2x maternal 47,XY,+mar[100%] mar(15) wcp probes; UPD-test (in 1 case) Advanced maternal age; mothers normal; no info on children available {210} cases 19, 20  
  15-CO-
63		 female/
prenatal		 AF paternal 47,XX,+mar[100%] mar(15) wcp probes; UPD-test Advanced maternal age; father  normal; no info on child available {210} case 27  
  15-CO-
64		 male/
postnatal		 PBL n.a. 47,XY,+mar[100%] inv dup(15) cep 15 primary infertility with oligoasthenozoospermia {211} case 9
{253} case 85		  
  15-CO-
65 to 66		 female/
prenatal		 AF 2x paternal 47,XX,+mar[100%] mar(15) wcp probes; UPD-test Advanced maternal age; normal at birth or 15m {210} cases 25, 26  
  15-CO-
67		 male/
postnatal		 PBL
sperm		 n.a. 47,XY,+mar[100%] inv dup(15)
in sperm: 97/713 (14%) with 2 or more signals		 cep 15 Oligozoospermia {222} case 1
{253} case 86		  
  15-CO-
68		 male/
postnatal		 PBL
sperm		 n.a. 47,XY,+mar[100%] inv dup(15)
in sperm: 251/2076 (12%) with 2 or more signals		 cep 15 sterility {222} case 2
{253} case 87		  
  15-CO-
69		 male/
postnatal		 PBL n.a. 47,XY,+mar[100%] inv dup(15)
in interphase in blood: 70% of 1056 cells with 3 or more signals		 cep 15 severe OAT {222} case 3
{253} case 88		  
  15-CO-
70		 male/
postnatal		 PBL n.a. 47,XY,+mar[100%] inv dup(15)
in interphase in blood: 48% of 100 cells with 3 or more signals		 cep 15 severe OAT {222} case 4
{253} case 89		  
  15-CO-
71		 male/
postnatal		 PBL n.a. 47,XY,+mar[100%] inv dup(15)
 in interphase in blood: 73% of 104 cells with 3 or more signals		 cep 15 cryptozoospermia {222} case 5
{253} case 90		  
  15-CO-
72		 male/
postnatal		 PBL n.a. 47,XY,+mar[100%] inv dup(15)
 in interphase in blood: 76% of 119 cells with 3 or more signals		 cep 15 implantation failure {222} case 6
{253} case 91		  
  15-CO-
73		 male/
postnatal		 PBL n.a. 47,XY,+mar[100%] inv dup(15) cep 15 sperm donor {222} case 7
{253} case 92		  
  15-CO-
74		 male/
postnatal		 PBL n.a. 47,XY,+mar[100%] mar(15) cep 15; SNRPN- severe OAT {254} case 13  
  15-CO-
75 to 78		 4x female/
2x prenatal
2x postnatal		 AF / PBL n.a. 47,XX,+mar[100%] or mos inv dup(15)
1x inv dup(15)/r(15)		 n.a. no clinical signs {256} cases 11, 12, 20, 22  
  15-CO-
79		 female/
prenatal		 AF de novo 47,XX,+mar[100%] inv dup(15)(q1?) cep probes, SNRPN; UPD-test normal female born {263}  
  15-CO-
80		 n.a./
prenatal		 AF de novo 47,+mar[38%]/
46[62%]		 r(15) wcp15; cep15; UPD-test Advanced maternal age. normal child borne {270} case 10  
  15-CO-
81		 n.a./
prenatal		 AF paternal 47,+mar[100%] inv dup(15) wcp15; cep15; UPD-test Abnormal triple test,  normal child borne {270} case 2  
  15-CO-
82		 male/
prenatal		 AF de novo 47,XY,+mar[?%/ 46,XY[?%] inv dup(15) cep15 parents anxiety, normal at 17y {272} case 1  
  15-CO-
83		 n.a./
postnatal		 PBL maternal 47,+mar[?%] inv dup(15) array-CGH n.a. {280} 1 case  
  15-CO-
84  to 86		 n.a./
prenatal		 AF maternal 47,+mar[?100%] inv dup(15) n.a. mothers normal, children normal in sonography {281} 3 cases  
  15-CO-
87 to 91		 n.a./
prenatal		 AF de novo 47,+mar[?100%] inv dup(15)
(no euchromatin)		 n.a. normal sonography {281} 5 cases  
  15-CO-
92		 male/
41y		 PBL n.a. 47,XY+mar[?100%] inv dup(15) n.a. normal male, fertility problems {303} case 2  
  15-CO-
93		 male/
prenatal		 AF paternal 47,XY,+mar[8]/
46,XY[2]		 mar(15) SKY Advanced maternal age; father  normal; no info on child available {311} case F058133  
  15-CO-
94		 male/
25y		 PBL n.a. 47,XY,+mar[?100%] mar(15) SKY infertility {311} case F077829