ChromosOmics - Database

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                                                  - Aneusomy AUTOSOMAL -                                                 

sSMC and +13
sSMC and +18
sSMC and +21
sSMC and + one other autosome
sSMC and + two other autosomes
DISCLAIMER
sSMC together with trisomy 13

case no.
new

case no.
old

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
+13-
22-
1
22-
U-
54
male/
prenatal
AF n.a. 48,XY,+13,+mar[100%] min(22)(:p11.?2q11.1:) cenM; subcenM prenatally detected; TOP {0} provided by Dr. Mehnert, Neu-Ulm, Germany

sSMC together with trisomy 18

case no.
new

case no.
old

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
+18-
14/22-
1
14/22-
U-
23
male/
1y
PBL n.a. 48,XY,+18,+mar[10]/
47,XY,+mar[20]
inv dup(14 or 22)(q10) different FISH probes Edwards
syndrome
{0}
+18-
15-
1
15-
U-
164

male/
newborn
PBL de novo 48,XY,+18,+inv dup(15)[100%] inv dup(15) n.a. Edwards
syndrome
{265}

sSMC together with trisomy 21
Down syndrome due to a free trisomy 21 may be (in rare cases) accompanied by presence of an additional sSMC.
Such cases are here collected.
Frequency of sSMC plus trisomy 21 among Down syndrome patients (according to {6}): 3 of 25,817 cases with Down syndrome;
the same paper concludes, that there is no increased risk of trisomy (21) in carriers of sSMC.

Cases without sSMC but with Down syndrome (47,+21) from parents with SMC (47,+mar)
Described in Refs: {9, 18, 19, 20, 21, 22}


sSMC in Down syndrome
sSMC
1
sSMC
2

sSMC
3
sSMC
4

sSMC
5
sSMC
(1)/5/19

sSMC
6
sSMC
7

sSMC
8
sSMC
9
sSMC
10
sSMC
11
sSMC
12
sSMC
13

sSMC
13/21

sSMC
14

sSMC
14/22

sSMC
15

sSMC
16

sSMC
17
sSMC
18
sSMC
19
sSMC
20
sSMC
21

sSMC
22

sSMC
X

sSMC
Y

sSMC
acro

sSMC
non-acro
sSMC
multiple


sSMC unclear


sSMC
McCl
sSMC
Ps-McCl


case no.
new
case no.
old
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
+21-
00-
1 to 3
+21-
U-
3 to 5
n.a./
n.a.
n.a. n.a. 48,+21,+mar n.a. n.a. Down syndrome {8} original literature not available
+21-
00-
4
+21-
U-
12
female/
1m
PBL n.a. 48,+21,+mar[?] n.a. n.a. Down syndrome {13} case 4
+21-
00-
5
+21-
U-
13
n.a./
1m
PBL n.a. 48,+21,+mar[?] n.a. n.a. Down syndrome {14} original literature presently not available
+21-
00-
6
+21-
U-
14
n.a./
1m
PBL n.a. 48,+21,+mar[?] n.a. n.a. Down syndrome {15} original literature presently not available
+21-
00-
7
+21-
U-
15
n.a./
1m
PBL n.a. 48,+21,+mar[?] n.a. n.a. Down syndrome {16} original literature not available
+21-
00-
8
+21-
U-
16
female/
1m
PBL mat 48,XX,+21,+mar[?] n.a. n.a. Down syndrome {17}
+21-
00-
9
+21-
U-
17
n.a./
1m
PBL n.a. 48,+21,+mar[?] n.a. n.a. Down syndrome {18} original literature not available
+21-
00-
10
+21-
U-
18
n.a./
1m
PBL n.a. 48,+21,+mar[?] n.a. n.a. Down syndrome {19} original literature not available
+21-
00-
11
+21-
U-
19
n.a./
1m
PBL n.a. 48,+21,+mar[?] n.a. n.a. Down syndrome {20} original literature not available
+21-
00-
12
+21-
U-
20
male/
prenatal
AF mat 48,XY,+21,+mar[?] n.a. n.a. Down syndrome
TOP
{21} case 2
+21-
00-
13
+21-
U-
25
n.a./
1w
PBL familial 48,+21,+mar[?] n.a. n.a. Down syndrome {27}
+21-
00-
14
+21-
U-
26
male/
postnatal
PBL familial 48,XY,+21,+mar[?] n.a. n.a. Down syndrome {28}
+21-
00-
15
+21-
U-
27
male/
postnatal
n.a. n.a. 48,XY,+21,+mar[?] n.a. n.a. Down syndrome {29}
+21-
00-
16
+21-
U-
33
female/
7m
PBL de novo 48,XX,+21,+mar n.a.
n.a.
Down syndrome
{30}
+21-
00-
17
+21-
U-
42
male/
newborn
PBL familial 48,XY,+21,+mar n.a. aCGH Down syndrome {36} case 1
+21-
acro-
1
+21-
U-
6
male/
1m
PBL de novo 48,XY,+21,+mar (bisatellited)[?] n.a. n.a. Down syndrome {7} case 6
+21-
acro-
2
+21-
U-
7
female/
1m
PBL de novo 48,XX,+21,+mar (bisatellited)[?] n.a. n.a. Down syndrome {7} case 7
+21-
acro-
3
+21-
U-
8
female/
1m
PBL de novo 48,XX,+21,+mar (bisatellited)[?] n.a. n.a. Down syndrome {9}
+21-
acro-
4
+21-
U-
9
male/
1m
PBL de novo 48,XY,+21,+mar (bisatellited)[?] n.a. n.a. Down syndrome {10}
+21-
acro-
5
+21-
U-
10
female/
1m
PBL de novo 48,XX,+21,+mar (bisatellited)[?] n.a. n.a. Down syndrome {11}
+21-
acro-
6
+21-
U-
11
female/
1m
PBL de novo 48,XX,+21,+mar (bisatellited)[?] n.a. n.a. Down syndrome {12}
+21-
acro-
7
+21-
U-
47
male/
1m
PBL n.a. 48,XY,+21,+mar[40%]/
47,XY,+21[60%]
inv dup (acro)(p10) acrocenM Down syndrome {0} provided from Dresden, Germany
+21-
02-
1
n.a. female/
prenatal
fibroblasts ?pat
3/200 cells
48,XX,+21,+mar[25]/
47,XX,+21[5]
min(2)(:p11.1→q11.2:)
cenM
subcenM
Down syndrome
TOP
{0} provided from Hannover, Germany
+21-
04-
1
+21-
U-
1
male/
1m
PBL de novo 48,XY,+21,+mar[28]/
47,XY,+21[7]
min(4)(:p12→q11:)
partial maternal iso-UPD 4p16
cenM
subcenM; UPD-test
Down syndrome {1} case 10
{2}
+21-
07-
1
+21-
U-
28
male/
postnatal
PBL
(EKF-
cellbank)
n.a. 47,XY,+21/47,XY,+mar/
?48,XY,+21,+mar/?
46,XY; mar in 50% of the cells
min(7)(:p11.1
q11.21:)[10]/
r(7)(::p11.1

q11.21::)[1x]/
min(7)(:q11.21-p11.1:
:p11.1
q11.21:)[9]
cenM
subcenM
Down syndrome {0} provided by Dr. B Zoll, Göttingen, Germany
+21-
13-
1

+21-
U-
32
male/
adult
PBL n.a. 48,XY,+21,+mar[1]/
47,XY,+21[29]
r(13)(::p1?2→q1?3::)[1]/
der(13)(pter→q?12.11:
:p11.1→q1?3:
:q11.1→p1?1.2:)[2]
cenM, subcenM Down syndrome {32}
+21-
13-
2
+21-
U-
48
male/
adult
PBL n.a. 48,XY,+21,+mar[1]/ 47,XY,+21[29] r(13)(::p1?2→q1?3::)[1]/
der(13
)(pter→q?12.11:
:p11.1→q1?3:
:q11.1→p1?1.2:)[2]
cenM, subcenM Down syndrome {0} provided by Dr. Brecevic, Zagreb, Croatia
+21-
13/21-
1
+21-
U-
29
female/
postnatal
PBL familial 48,XX,+21,+mar[100%] inv dup(13)(q11) or
inv dup (21)(q11.1)

M-FISH; cenM
subcen
Down syndrome {0} provided by Carme Fuster, Barcelona, Spain
+21-
13/21-
2
+21-
U-
38
female/
postnatal
PBL
(EKF-
cellbank)
pat 48,XY,+21,+mar[100%] inv dup(13or 21)(q10) cenM, subcenM Down syndrome {0}
+21-
13/21/18
1
+21-
U-
35
male/
7y
PBL de novo 48,XY,+21,+mar[100%] der(13 or 21)t(13 or 21;18)(13 or 21pter→13q11 or 21q11.1:
:18p11.21→18p11.32)
M-FISH, subcenM Down syndrome {37}
+21-
14-
1
+21-
U-
22
female/
1m
PBL de novo 48,XX,+21,+mar[45%]/
47,XX,+21[55%]
r(14)
negative for D22Z4 and positive for D14/22Z1
FISH with all available centromeric probes Down syndrome {23} case 7
+21-
14-
2
+21-
U-
36
male/
2m
PBL mat 46,XY,der(14;21)(q10;q10),+mar[100%] min(14)(:p11→q11:) centromeric probes Down syndrome {31}
+21-
14-
3
+21-
U-
40
male/
newborn
PBL mat
for mother see 14-O-q11/2-1
47,XY,rob(13;21)(q10;q10),+21,+mar* min(14)(:p11→q11:) cep probes Down syndrome {34}
+21-
14-
4
- male/
prenatal
AF mat 48,XY,+21,+mar inv dup(14)(q11.1) ceps Down syndrome {0} provided by Dr. Demuth, Erfurth, Germany
+21-
14/22-
1
+21-
U-
23
female/
prenatal
AF n.a. 48,XX,+21,+r[60%]/
47,XX,+21[40%]
r(14 or 22)
ring present in 80% of lung tissue
FISH with all available centromeric probes AMA, TOP, Down syndrome {24;25} case 23
+21-
14/22-
2
+21-
U-
24
female/
1w
PBL maternal
due to a karyotype 46,XX,t(14;21) (q11.1;p11.1)*
47,XX,t(14;21)
(q11.1;p11.1),+21
sSMC is here the der(14)t(14;21)
(q11.1;p11.1)
n.a. n.a. Down syndrome {26}
+21-
14/22-
3
+21-
U-
34
female/
2y
PBL de novo 47,XX,der(14)t(14,21),
+mar[100%]
47,XX,t(14;21)
(q11.1;p11.2),+21
cenM, subcenM Down syndrome {33} case P-8, {38}
+21-
15-
1
+21-
U-
2
female/
at birth
PBL mat 47,XX,-14,+t(14;21)
(p11;p11),+mar[?]
inv dup(15)(q11.2 or q12) radioactive ISH with pML34 Down syndrome {3; 4; 5}
+21-
15-
2
+21-
U-
2a
male/
1m
PBL de novo 48,XY,+21,+mar[22] inv dup(15)(q10) cenM;
subcenM
Down syndrome {1} case 23
+21-
15-
3

+21-
U-
44
male/
prenatal
CVS de novo 48,X,+21,+mar[100%] inv dup(15)(q12)
(excl. SNRPN); aCGH: pter-46.95
cep, SNRPN; aCGH Down syndrome {39} case CVS-2
+21-
15-
4
+21-
U-
46
female/
prenatal
AF n.a. 48,XX,+21,+mar[7]/
47,XX,+21[23] and UPD(15)mat
min(15)(q11.1)
cenM
subcenM
Down syndrome;
PWS
{0} provided by Dr. Huhle, Leipzig, Germany
+21-
15-
5
 sib of
15-O-
q11.1/1-21
n.a./
prenatal
AF n.a. 48,XX,+21,+mar[?mos] inv dup(15)(q11.1) n.a. Down syndrome {0} provided by Dr. Niemann, Overat, Germany
+21-
15-
6
 sib of
15-O-
q11.2/1-18

female/
prenatal
AF n.a. 48,XX,+21,+mar[?mos] inv dup(15)(q11.2) acrocenM; subcenM Down syndrome;
PWS
{0} provided by Dr. Dufke, Tübingen, Germany
+21-
15-
7
15-
U-
2
female/
at birth
PBL maternal 47,XX,-14,+t(14;21)(p11;p11),+mar[?] inv dup(15)(q11.2 or q12) radioactive ISH with pML34 Down syndrome {42-44}
+21-
15-
8
see McCl-15-N-q11.1/2-1
+21-
16-
1
+21-
U-
37
male/
prenatal
AF n.a. 48,XY,+21,+r(16)(p11.2q11.2)[11]/47,XY,+21[19] mar(16)(:p11.2q11.2:)
array: 31.65-45.07 MB
aCGH Down syndrome {0} provided by Dr. S.W. Cheung, Houston, USA
+21-
21-
1
+21-
U-
41
male/
4m
PBL n.a. 47,XY,t(4;19)(p16.3;p13.2),inv dup(21)(q10),+inv dup(21)(p10) inv dup(21)(p10) SKY, subcenM Down syndrome {0} provided by Dr. Aniko Ujfalusi, Hungary
+21-
21-
2
+21-
U-
45a
male/
postnatal
PBL n.a. 47,XY,der(21;21)(q10;q10),+21,+mar[100%] der(21;21)(p11.1;p11.1) subcenM Down syndrome {0} provided from Poland
+21-
21-
3
+21-
U-
45b
male/
postnatal
PBL n.a. 47,XY,der(21;21)(q10;q10),+21,+mar[100%] der(21;21)(p11.1;p11.1) subcenM Down syndrome {0} provided by Dr. Vesic, Belgrade, Serbia
+21-
21-
4
+21-
U-
45c
male/
prenatal
AF n.a. 47,XY,der(21;21)(q10;q10),+21,+mar[100%] der(21;21)(p11.1;p11.1) FISH Down syndrome {0} provided by Dr. Vesic, Belgrade, Serbia
+21-
22-
1
+21-
U-
30

male/
1m
PBL n.a. 48,XY,+21,+mar[90%]/
47,XY,+21[10%]
min(22)(pterq11.22:) cenM, subcenM; CES-specific probes normal pregnancy, born by sectio cesaraea; Down syndrome with AVSD and Morbus Hirschsprung {0} provided by Dr. Mazauric, Düsseldorf, Germany
+21-
22-
2
+21-
U-
31
female/
1m
PBL de novo 48,XY,+21,+mar[10]/
47,XY,+21[30]
inv dup(22)(q11.1) cenM, subcenM Down syndrome {0} provided by Dr. Huhle, Leipzig, Germany
+21-
22-
3
+21-
U-
39
male/
prenatal
fibroblasts n.a. 48,XY,+21,+mar[11]/
47,XY,+21[4]
min(22)(pterq11.21) cenM, subcenM Spontaneous abortion - maybe due to combination of trisomy 21 and sSMC {35} case 26
+21-
0X-
1
minX-
p11.1/
1-1
female/
postnatal
PBL n.a. 46,X,+21,+mar[67%]/
45,X[33%]
min(X)(:p11.1q11.1:) n.a. Down syndrome {45} case 6
+21-
0Y-
1
+21-
U-
43
n.a./
prenatal
AF n.a. 47,X,+21,+mar[15]/
46,X,+21[2]
min(Y)(pterq11.1) subcenM Down syndrome {0} provided from Poland
+21-
0Y-
2
- n.a./
n.a.
PBL? de novo 46,X,+mar[30]/
47,XY,+21[20]
min(Y)(:p11.2→q11.221:) n.a. Down syndrome {41}

sSMC together with trisomy of another autosome than 13, 18 or 21

case no.
new

case no.
old

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-
13/21-
1
13/21-
U-
34
female/
prenatal
CH n.a. 48,XX,+15,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) cenM; subcenM miscarriage in week 10 {0} provided by Dr. Petersen, Athens, Greece

sSMC together with trisomy of two other autosomes apart from 13, 18 or 21

case no.
new

case no.
old

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
+ +-

1

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