ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #15 -                                                 
NORMAL
Specific PATIENTINFORMATION for sSMC(15)

Cases without clinical
findings

Similar imbalances -
no sSMC

sSMC
not well characterized

Cases with clinical findings
Similar imbalances – no sSMC
inv dup(15) + autism
inv dup(15) + seizures
Cases without clear clinical correlation
Cases with discontinous sSMC
Cases with complex sSMC
Cases with UPD and sSMC
der(15) + PWS
der(15) + AS
Cases (sSMC) with neocentromeres
Similar imbalances - no sSMC
Tumor
DISCLAIMER
                                                                                                                                                                                                                           References

In general 70% of sSMC carriers are clinically normal. The figures listed above

are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!


UPD (uniparental disomy) cases: UPD(15)mat UPD(15)pat UPD(15)mat or pat

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
AMA; 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 AMA {57} cases 15, 16
{358} case 15-1
{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 15-8
4
{256} case 18
{358} case 15-2
15-
O-

q10/
1-5
male/
prenatal
AF maternal 47,XY,+mar[100%] inv dup(15)(q10) cenM;
subcenM
AMA; 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 DD {184}case 15-86
15-
O-

q10/
1-7
male/
prenatal
AF, PBL
(EKF-
cellbank)
n.a. 47,XY,+mar[100%] inv dup(15)(q10) cep probes
subcenM
SNRPN
AMA, 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
AMA; 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
AMA; 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 {0} 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)(ptercen:
: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)(pterq10:)* cep probes
wcp 15
AMA; no clinical signs in born child at 2y {199} case 4
15-
O-

q10/
4-1
see 13/21-O-q10/5-1
15-
O-

q11/
1-1
male/
prenatal
AF, PBL
(EKF-
cellbank)
de novo 47,XY,+mar[20]/
46,XY[80]
inv dup(15)(q11) cenM ANA; 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 AMA; 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 AMA; 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
{358} case 15-3 to 15-5
15-
O-

q11/
1-21
to 25
male/ female
1/4/
adult
PBL paternal 3x
maternal 1x
de novo 1x
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, -,-
{358} case 15-6 and 15-7
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
{358} case 15-8
15-
O-

q11/
1-27
male/
prenatal
AF maternal 47,XY,+mar[100%] inv dup(15)(q11) no FISH done
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
{205} 1 case, no individual number
{253} case 53
{358} case 15-9
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
{358} case 15-10
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
{358} case 15-11 and 15-12
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
{358} case 15-13
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 {358} case 15-14
15-
O-
q11/

1-42
male/
41y
PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11)* cep; subcenM normal male with infertility {358} case 15-15
15-
O-
q11/

1-43
male/
41y
PBL
(EKF-
cellbank)
n.a. 47,XY,+mar[100%] inv dup(15)(q11) cep; subcenM normal male with infertility {358} case 15-16
15-
O-
q11/
1-44
to 1-47
male/
adult
PBL n.a. 47,XY,+mar[?100%] inv dup(15)(q11) cep probes normal males with infertility {337} 4 cases
{358} case 15-17 to 15-20
15-
O-
q11/
1-48
female/
adult
BM n.a. 47,XX,+mar[100%] inv dup(15)(q11)* cep probes normal female; detected as bine marrow of her was donated for a person suffering from leukemia {367}
15-
O-
q11/
1-49
male/
prenatal
AF mat 47,XY,+mar[100%] inv dup(15)(q11) cep probes
M-FISH
mother normal female
{369} case 4
15-
O-
q11/

2-1
male/
27y
PBL maternal
(mother
with one
mar in all cells)
48,XY,+marx2[100%] inv dup(15)(q11) n.a. normal male studied due to 3 miscarriages of female partner {54}
{253} case 58
{358} case 15-21
15-
O-
q11/

2-2
female/
40y
PBL paternal
father
with one
sSMC only
48,XX,+marx2[100%] inv dup(15)(q11) centromeric probes normal apart from unclear sterility in partnership {150}
{253} case 59
{358} case 15-22
15-
O-
q11/

2-3
female/
32y
PBL de novo 48,XX,+marx2[100%] inv dup(15)(q11) centromeric probes normal apart from unclear sterility in partnership {107} case 2
{253} case 60
{358} case 15-23
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)(::p11q11::)* 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)(:p11q11:) cenM; subcenM normal male with infertility (sperm 5-8million/ml) {208} case 3
{253} case 61
{358} case 15-24
15-
O-
q11/

4-2
female/
48y
PBL
(EKF-
cellbank)
n.a. 47,XX,+mar[100%] min(15)(:p11q11:) 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
{358} case 15-25
15-
O-

q11.1/
1-2
to 4
female and male2x/
prenatal
AF de novo/ paternal 1x 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 AMA 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
{358} case 15-26
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
AMA; no ultrasound abnormalities {0} provided by Dr. J. Vermeesch,
Leuven, Belgium
15-
O-

q11.1/
1-10
female/
prenatal
AF, PBL
(EKF-
cellbank)
de novo 47,XX,+mar[30%]/
46,XX[70%]
inv dup(15)(q11.1) cenM, acro-cenM
subcenM; UPD-test
AMA; no ultrasound abnormalities; normal child born; {0} provided by Dr. Pruggmeier,
Peine, Germany
15-
O-

q11.1/
1-11
male/
15y
PBL
(EKF-
cellbank)
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
PBL 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
(EKF-
cellbank)
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 AMA, 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 AMA, 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 AMA, 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 AMA, 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 AMA 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 AMA 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 AMA or other reasons, normal children born {48} 3 cases
15-
O-

q11.1/
1-32 to 34
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
{358} case 15-27 to 15-29
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
{358} case 15-30
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
{358} case 15-31
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
{358} case 15-32
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
{358} case 15-33
15-
O-

q11.1/
1-43
male/
prenatal
AF maternal 47,XY,+mar[100%] inv dup(15)(q11.1) cep probes, subcenM; UPD-test AMA, 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
AMA (?); 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
{358} case 15-34
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
{358} case 15-35
15-
O-

q11.1/
1-47
male/
adult
PBL n.a.