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sSMC together with trisomy 21 - different CHROMOSOMES

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References

 

by chromosomal origin


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's 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
uncharct.
sSMC
multiple

sSMC
McClintock
    46,X
+sSMC X
46,X
+sSMC Y
 
     

 

 

References

 

 
  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 maternal 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 maternal 48,XY,+21,+mar[?] n.a. n.a. Down syndrome, TOP {21} case 2  
  +21-
00-1
3
+21-
U-25
n.a./
1w
PBL familial 48,+21,+mar[?] n.a. n.a. Down syndrome {27}  
  +21-
00-1
4
+21-
U-26
male/
postnatal
PBL familial 48,XY,+21,+mar[?] n.a. n.a. Down syndrome {28}  
  +21-
00-1
5
+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 Hannover  
+21-
01-1
                   
+21-
02-1
                   
+21-
03-1
                   
+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-
05-1
                   
+21-
06-1
                   
+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-
08-1
                   
+21-
09-1
                   
+21-
10-1
                   
+21-
11-1
                   
+21-
12-1
                   
+21-
13-1
+21-
U-32
male/
adult
PBL n.a. 48,XY,+21,+mar[1]/
47,XY,+21[29]
r(13)(::p1?2q1?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?2q1?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 21pter13q11 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)(:p11q11:) centromeric probes Down syndrome {31}  
  +21-
14-3
+21-
U-40
male/
newborn
PBL mat
for mother see 14-O-q11/2-
47,XY,rob(13;21)(q10;q10),+21,+mar* min(14)(:p11q11:) cep probes Down syndrome {34}  
+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 maternal 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
del(15)(q11.1) cenM
subcenM
Down syndrome
PWS
{0} provided by Dr. Huhle, Leipzig, Germany  
+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
array-CGH Down syndrome {0} provided by Dr. S.W. Cheung, Houston, USA  
+21-
17-1
                   
+21-
18-1
                   
+21-
19-1
                   
+21-
20-1
                   
  +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) 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 see below {0} provided by Dr. Mazauric, Düsseldorf, Germany  
normal pregnancy, born by sectio cesaraea; Down syndrome with AVSD and Morbus Hirschsprung
  +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
                   
  +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-
-Y-1
  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}