ChromosOmics - Database

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

Cases without clinical findings
Similar imbalances – no sSMC
Cases without 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 with neocentromeres
Similar imbalances - no sSMC
Tumor
DISCLAIMER
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 with unclear clinical correlation (U)

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-
U-

1
see 15-Ud-9
15-
U-

2
see +21-15-7 {8; 9; 10}
15-
U-

2a
see +21-15-2 {1} case 23
15-
U-

3
female/
4m
PBL de novo 47,XX,dup(15)(q11q13), +mar[100] inv dup(15)(q11~12)* wcp15; various YACS from 15q11 to 15q13 birth weight 3540g (<90. centile), spasmus nutans, DD, at 4y weight ~97. centile, height normal, HC 75. centile {109}
15-
U-

4
female/
prenatal
AF n.a. 47,XX,+mar[20] r(15)(::q10q1?4::) .ish(UBE3A+;SNRPN+) M-FISH;
acro-cenM;
subcenM;
MCB
AMA; no ultrasound abnormalities, TOP; presence of marker confirmed in fetal tissue {0} provided by Dr. A. Dufke, Tübingen, Germany
15-
U-

5
see 15-Ud-10
15-
U-

6
see 15-Uc-4
15-
U-

8-1 to 8-3
male/ female 2x/
prenatal
AF de novo 47,+mar[100%] inv dup(15)(q11) all available centromeric probes AMA; no ultrasound abnormalities;TOP; no abnormalities in autopsy {35} cases 19-21
15-
U-

8-4

female/
7y
PBL de novo 47,XX,+mar[56%]
46,XX[44%]
inv dup(15)(q11.1) centromeric probes; subcenM normal size, weight and facial appearance at 7y; logopaedia since 3 y for some pronunciation problems, at 7y ataxia, no MR {0}
provided by Dr. M. Zankl, Homburg, Germany
15-
U-

9
female/
prenatal
AF de novo 47,XX,+mar[100%] inv dup(15)(q12 or 13) all available centromeric probes; wcp 15 AMA; no ultrasound abnormalities; TOP; no abnormalities in autopsy {35} case 22
15-
U-

10
see 15-Uc-2
15-
U-

11
male/
prenatal
AF de novo 47,XY,+r[10]/
46,XY[24]
min(15) .ish(D15Z1+;wcp15+)
cep 15;
SKY;
SNRPN; D15S10
AMA; no ultrasound abnormalities; TOP {38}
15-
U-

12
female/
8m
PBL de novo 47,XX,der(1)t(1;15)(pter;q1?2),
+inv dup(15)(q11)[60%]/
46,XX,der(1)t(1;15) (pter;q1?2)[40%]

n.a.
n.a. hypotonia, mild plagiocephaly, low-set ears, bilateral clinodactyly of 5. finger, DD, MR {66}
15-
U-

13
female/
6m
PBL de novo 47,XX,dup(15)(q11.2q12), +inv dup(15)(q11.1)[100] n.a. n.a. birth weight 3700g , at 6m hypotonia, motor delay, DD, DYS {131}
15-
U-

14
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup (15)(q11.1) cep probes and subcenM-FISH pregnancy loss {0} provided by Jason Anderson, (Brisbane, Australia
15-
U-

15
see 15-Uc-5
15-
U-

16 to 18
female/
n.a.
n.a. 1 de novo
2 n.a.
47,XX,+mar [100%] 2x
48,XX,+mar[?]/ 47,XX,+mar[?] 1x
inv dup (15)(q11.2)
(no SNRPN)
cep 15;
SNRPN
n.a. {148} cases 13, 16, 18
15-
U-

19
female/
n.a.
n.a. n.a. 48,XX,+?rx2[?]/
47,XX,+?r[?]/
46,XX
?r(15)
(no SNRPN)
cep 15;
SNRPN
n.a. {148} case 19
15-
U-

20
female/
n.a.
n.a. n.a. 47,XX,+mar[100%] min(15)(pterq12:)*
(with 1 SNRPN)
cep 15;
SNRPN
n.a. {148} case 20
15-
U-

21
female/
prenatal
n.a. n.a. 47,XX,+mar[mos] inv dup (15) SKY TOP {153}
15-
U-

22
n.a./
prenatal
n.a. de novo 47,+mar[100%] inv dup (15) centromeric probes TOP {157} case 1
15-
U-

23
male/
6y
PBL de novo 47,XY,+mar[100%] inv dup(15)(pterq13.3:
:q13.2
pter)
breaks 28.90 and 30.23 MB
aCGH abnormal phenotype; BWS - abnormal methylation in LIT1 {297} case 10
15-
U-

24
female/
prenatal
AF, PBL
(EKF-
cellbank)
de novo 47,XX,+mar[35%]/
46,XX[65%]
min(15)(:p11.1q11.1:) cenM, acro-cenM, subcenM; UPD-test see below {0} provided by Dr. Mehnert, Neu-Ulm, Germany
AMA and antibiotics therapy in month two of pregnancy due to Lyme disease; no ultrasound abnormalities; child born; normal apart from skin abnormality described as marbling of right upper body including arms plus left leg
15-
U-

25
see mult 2-17 {0} provided by Dr. A Dufke, Tübingen, Germany
15-
U-

26
male/
prenatal
AF de novo 47,XY,+mar[54]/
46,XY[8]
min(15)(pterq12:) ,
p-arm very short
array: 0.00-30.61 MB
min(15)(pter
q13.2:)
midi; aCGH AMA, no further info available {0} provided by Dr. Kerber, Hamburg, Germany
15-
U-

27
male/
prenatal
AF de novo 47,XY,+mar[?%]/
46,XY[?%]
inv dup(15)(q10) midi; aCGH no data available on embryo, studied due to high risk due to AFP {256} case 15
15-
U-

28
female/
prenatal
AF de novo
47,XX,+mar[~60%]/
46,XX[~40%%]
inv dup(15)(:p11.2q11.1:
:q11.1
p11.2:)[6]/
inv dup(15)(:p11.1
q11.1:
:q11.1
p11.1:)[1]/
min(15)(:p11.2
q11.1:)[1]
centromeric probes, subcenM no data available {0} provided by Carme Fuster, Barcelona, Spain
15-
U-

29
female/
prenatal
AF de novo 47,XX,+mar[100%] inv dup(15)(q11.2) centromeric probes, subcenM no data available {0} provided by Dr. Joris Vermeesch, Leuven, Belgium
15-
U-

30
n.a./
prenatal
AF de novo 47,+mar[?%] inv dup(15) n.a.
no data available
{202} 1 case
15-
U-

31
female/
prenatal
AF n.a. 47,XX,+mar[61%]/
46,XX[39%]
min(15)(pterq11.1:) centromeric probes, subcenM, SNRPN AMA, no further info available {0} provided by Drs. Schulze/Schmidt,
Hannover, Germany
15-
U-

32 to
43
male (6)/
female (6)/

prenatal or postnatal

AF/ PBL
de novo 47,+mar[100%] mar(15) wcp 15 abnormal or normal, no clear details given {209} cases 2-9; 11-13; 15
15-
U-

44 to
55
male (2)/ female (6)/
prenatal
AF de novo (6x); n.a. (2x) 47,+mar[100%] mar(15) wcp 15 SNRPN; UPD-test (in 6 cases) prenatally diagnosed {210} cases 7, 9, 11-13, 15, 17-18
15-
U-

56 to
62
male (3)/ female (4)/
prenatal
AF de novo 47,+mar[100%] inv dup(15) centromeric probes AMA; TOP {12} cases 13,19, 21,25,28,31; {15} cases 44 ,-,-,-,47,46,48
15-
U-

63
male/
prenatal
AF de novo 47,XY,+mar[100%] inv dup(15)(q11.2) centromeric probes; probe pHSR AMA; TOP {16} case 1
15-
U-

64
male/
prenatal
AF de novo 47,XY,+mar[75%]/
46,XY[25%]
min(15)* centromeric probes TOP; at autopsy fetus with low set ears {25} case 8
15-
U-

65 to 66
female/
prenatal
AF de novo 47,XX,+mar[75%]/
46,XX[25%]
min(15) and inv dup(15) centromeric probes TOP; no info {26} cases 8, 10
15-
U-
67
female/
prenatal
AF de novo 47,XX,+mar[100%] min(15)* centromeric probes AMA; TOP; no info {32; 33; 34} cases 1
15-
U-

68 to 69
female/
prenatal
AF de novo 47,XX,+mar[100%] inv dup(15)(q11.2) centromeric probes TOP; no abnormalities in autopsy {36} cases 5-6
15-
U-

70 to 74
male (2)/ female (3)/
prenatal
AF de novo 47,+mar[100%] inv dup(15)(q11.1) centromeric probes TOP; no abnormalities in autopsy {15} cases 44-48
15-
U-

75
n.a./
prenatal
AF de novo 47,+mar[100%] inv dup(15) centromeric probes TOP; no info {48} 1 case
15-
U-

76
female/
prenatal
AF de novo 47,XX,+mar[?100%] inv dup(15) centromeric probes no info {51} case DL9
15-
U-

77
male/
prenatal
AF, lung, skin, tendon, gonad, blood de novo 48,XY,+2mar[79-95%]/
46,XY[remainder]
inv dup(15) centromeric probes TOP; no abnormalities in autopsy {65} case 2
15-
U-

78 to 80
female (2x)/1x n.a./
prenatal
AF n.a. 47,+mar[?100%] inv dup(15) centromeric probes TOP and or no info available {71} cases 9/11/22
{102} cases 16/11/--
15-
U-

81 to 83
n.a./
n.a.
n.a. n.a. 47,+mar[?100%]
inv dup(15)
centromeric probes no info available {84} cases 1-3
15-
U-

84
n.a./
n.a.
n.a. n.a. 47,+mar[?100%] mar(15) centromeric probes no info available {125} case HS38
15-
U-

85
n.a./
n.a.
n.a. n.a. 47,+mar[?100%] mar(15) centromeric probes no info available {130}
15-
U-

86
male/
prenatal

AF
n.a. 48,XY,+mar,+mar[100%] inv dup(15)(q10)x2 cenM, subcenM; UPD-test no info available {0} provided by Dr. Sandig, Leipzig, Germany
15-
U-

87
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) cenM, subcenM no info available {0} provided by Dr. M. Manolakos, Athens, Greece
15-
U-

88 to 132

n.a./
n.a.
n.a. n.a. 47,+mar[?%]
mar(15)
n.a. no info available {212} 45 cases
15-
U-

133
male/
11y
PBL de novo 47,XY,+mar[100%] inv dup(15)(q12)
deletion in
Williams Beuren syndrome critical region on 7q11.2
centromeric probe;
Williams Beuren syndrome probe
see below {218}
Williams Beuren syndrome; at birth: talus valgus pronate feet, gastroesophagial reflux, hypotonia, feeding problems; later: systemic hypertension, weight and height below 3rd centile, psychomotor delay, supravalvular and aortic stenosis,
15-
U-

134
male/
prenatal
AF de novo 47,XY,+mar[15]/
46,XY[15]
inv dup(15)(q12) centromeric probes AMA; no further info available {227}
15-
U-

135 to 136
n.a./
n.a.
n.a. n.a. 47,+mar[?%] mar(15) centromeric probes no info available {228} 2 cases
15-
U-

137 to 142
n.a./
n.a.

n.a.

n.a.
47,+mar[?%] inv dup(15) centromeric probes; BACs no info available {233} 6 cases
15-
U-

143 to 150
n.a./
prenatal
AF n.a. 47,+mar[?%] mar(15) SKY no info available {236} 8 new cases
15-
U-

151
n.a./
n.a.
n.a. n.a. 47,+mar[?%] mar(15) midi no info available {245} 1 case
15-
U-

152
female/
prenatal
AF de novo 47,XX,+mar[10]/
46,XX[5]
min(15)(pterq11.2:)
0.00-20.94 MB
midi; cep probes; aCGH AMA; no info available {0}

15-
U-

153
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1)
cenM; subcenM
AMA; no info available {0} provided by genetikaimd, Belgrade, Serbia
15-
U-

154 to 159
n.a./
n.a.
n.a. n.a. 47,+mar[?%] mar(15) wcp probes no info available {258} 6 cases
15-
U-

160
see 15-Uc-6
15-
U-

161
see 15-Uc-9
15-
U-

162
n.a./
prenatal
AF n.a. 47,+mar[?%] inv dup(15)(q1?) n.a. AMA; no info available {260}
15-
U-

163
female/
prenatal
AF de novo 47,XX,+mar[100%] inv dup(15)(q14) cenM, subcenM, SNRPN AMA, twin pregnancy; selective TOP of twin with sSMC {0} provided by Dr. Demuth, Erfurt, Germany
15-
U-

164
see +18-15-1
15-
U-

165
n.a./
prenatal
AF de novo 47,+mar[100%] inv dup(15) cep 15, wcp 15 AMA, TOP {270} case 1
15-
U-

166
n.a./
prenatal
AF n.a. 47,+mar[?%] mar(15) n.a. n.a. {274} 1 case
15-
U-

167
female/
prenatal
PBL n.a. 47,XX,+mar[27]/
46,XX[3]
inv dup(15)(q11.2)
Array: 0.00-21.38 MB
cep probes; subcenM; aCGH; UPD-test AMA - no follow up available {0} provided by J Melo, Coimbra, Portugal
15-
U-

168
male/
prenatal
AF n.a. 48,XY,+marx2[3]/
47,XY,+mar(24)/
46,XY[3]
inv dup(15)(q11.1) acrocenM, subcenM born after unsuccessful fetocide; mental and growth retardation, asphyxia perinatal and with no minor stigmata. {0} provided by gentikaimd, Serbia
15-
U-

169
female/
prenatal
AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) cenM, subcenM; UPD-test AMA - no follow up available {0} provided by Dr. Huhle, Wetzlar, Germany
15-
U-

170
male/
n.a.
n.a. n.a. 47,XY,+mar[100%] inv dup(15)(q11.2)
Array: no euchromatin detected
cep probes, subcenM, MCB; aCGH n.a. {0} provided by J Melo, Coimbra, Portugal
15-
U-

171
female/
prenatal
AF n.a. 47,XX,+mar[100%] r(15)(::p1?2q11.1::) cep probes, subcenM TOP - no info available {0} provided by Dr. C. Fuster, Spain
15-
U-

172
female/
prenatal
AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) cep probes, subcenM n.a. {0} provided by J Melo, Coimbra, Portugal
15-
U-

173
n.a./
prenatal
AF n.a. 47,+mar[?%] inv dup(15) n.a. n.a. {283}
5-
U-

174 to 188
n.a./
prenatal
AF de novo 47,+mar[?%] inv dup(15) n.a.; UPD-test n.a. {290} 15 cases
15-
U-

189
see 15-Uc-11
15-
U-

190
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(15)(q11) cep probes, MLPA: wcps AMA {300} case 15
15-
U-

191
female/
prenatal
AF n.a. 47,XX,+mar[54]/
46,XX[5]
inv dup(15)(q11.2) cenM, subcenM; LSI UBE3A; UPD-test AMA {0} provided by Dr. Meins, Hannover, Germany
15-
U-

192
male/
prenatal
AF n.a. 47,XY,+mar[21]/
46,XY[54]
min(15)(pterq11.1:) cenM, subcenM; LSI UBE3A short femur in sonography, no follow up available {0} provided by Dr. Huhle, Leipzig, Germany
15-
U-

193
female/
prenatal
AF n.a. 47,XX,+mar[21]/
46,XX[8]
inv dup(15)(q11.1) acrocenM, subcenM AMA - no follow up available {0} provided by Dr. Kozlowski, Düsseldorf Germany
15-
U-

194
male/
prenatal
AF n.a. 47,XY,+mar[31]/
46,XY[19]
min(15)(pterq11.1:) acrocenM, subcenM; UPD-test AMA - no follow up available {0} provided by Dr. Snezana, Belgrade, Serbia
15-
U-

195
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM AMA - no follow up available {0} provided by Dr. Zivi Borochowitz; Israel
15-
U-

196

female/
prenatal
AF n.a. 47,XX,+mar[50%]/
46,XX[50%]
inv dup(15)(q11.1) acrocenM, subcenM AMA - no follow up available {0} provided by Dr. Kozlowski, Düsseldorf Germany
15-
U-

197
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.2) acrocenM, subcenM AMA - no follow up available {0} provided by Dr. S. Ourru, Cagliari, Italy
15-
U-

198
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.2) acrocenM, subcenM AMA - no follow up available {0} provided by Dr. S. Ourru, Cagliari, Italy
15-
U-

199

male/
prenatal
AF n.a. 47,XY,+mar[11]/
46,XY[5]
inv dup(15)(q11.1) ceps; subcenM AMA - no follow up available {0} provided by Dr. Beudt, Frankfurt, Germany
15-
U-

200
male/
prenatal
AF n.a.
47,XY,+mar[2]/
46,XY[23]
min(15)(pterq11.1:) cenM, subcenM AMA - no follow up available {0} provided by Dr. Heilbronner, Stuttgart, Germany
15-
U-

201
female/
prenatal
AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM AMA - no follow up available {0} provided by Dr. D. Katarska Slovakia
15-
U-

202
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM AMA - no follow up available {0} provided by Dr. M.B. Petersen, Athens, Greece
15-
U-
202a
n.a./
prenatal

AF
n.a. 47,XN,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM n.a. {0} provided by Mikrogen, Turkey
15-
U-

202b
female/
6y
PBL n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) aCGH seizures, hypotonia, DD, no speach {309} case 2
15-
U-
202c
male/
10y
PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM abnormal {0} provided by Dr. M. Mulhatino, Rio de Janeiro, Brasil
15-
U-

203
female/
3y
PBL n.a. 47,XX,+mar[100%] inv dup(15) SKY n.a. {311} case F0642559
15-
U-

204
female/