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)(pter→q12:)*
(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)(pter→q13.3:
: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)(:p11.1→q11.1:) 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)(pter→q12:) ,
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)(:p11.2→q11.1:
: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)(pter→q11.1:) 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)(pter→q11.2:)
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?2→q11.1::) 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)(pter→q11.1:) 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)(pter→q11.1:) 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)(pter→q11.1:) 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/
6y 		PBL n.a. 47,XY,+mar[?100%] inv dup(15) SKY Pervasive developmental disorder {311} case F0658799
15-
U-
205 		see 15-Uc-15
15-
U-
206 		see 15-Uc-7
15-
U-
207 		see 15-Uc-8
15-
U-
208 		see 15-Uc-12
15-
U-
209 		male/
prenatal 		AF n.a.
47,XY,+mar[7]/
46,XY[82] 		inv dup(15)(q11.1) acrocenM, subcenM n.a. {0} provided by Dr. Kunz, Berlin, Germany
15-
U-
210 		female/
prenatal 		AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.2) acrocenM, subcenM n.a. {0} provided by Dr. Hickmann, Düsseldorf, Germany
15-
U-
211 		male/
prenatal 		AF n.a. 47,XY,+mar[15%]/
46,XY[85%] 		inv dup(15)(q11.1) acrocenM, subcenM n.a. {0} provided by Dr. Gerad, Israel
15-
U-
212 		male/
prenatal 		AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM n.a. {0} provided by Dr. Morlot, Hannover, Germany
15-
U-
213 		male/
prenatal
AF 		n.a. 47,XY,+mar[50%]/
46,XY[50%] 		inv dup(15)(q11.2) acrocenM, subcenM n.a. {0} provided by Dr. Petersen, Athens, Greece
15-
U-
214 		see 15-Uc-14
15-
U-
215 		see 15-Uc-10
15-
U-
216 		female/
prenatal 		AF n.a. 47,XX,+mar[18]/
46,XX[2] 		min(15)(q11.1) acrocenM, subcenM AMA, no info available {0} provided by Dr. Ergun, Ankara, Turkey
15-
U-
217 		male/
prenatal		 CH n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM AMA, no info available {0} provided by Dr. Wegner, Berlin, Germany
15-
U-
218 		male/
prenatal 		AF n.a. 47,XY,+mar[84%]/
46,XY[16%] 		min(15)(q11.1) acrocenM, subcenM AMA, no info available {0} provided from Poland
15-
U-
219 		male/
prenatal 		AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM sonographic abnormalities in early pregnancy; no info available {0} provided by Dr. Huhle, Leipzig, Germany
15-
U-
220 		male/
prenatal 		AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM AMA, no info available {0} provided by Dr. Belitz, Berlin, Germany
15-
U-
221 		male/
prenatal 		AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM sonographic abnormalities in early pregnancy; no info available {0} provided by Dr. Wegner, Berlin, Germany
15-
U-
222 		male/
prenatal 		AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM AMA, no info available {0} provided by Dr. Gerad, Israel
15-
U-
223 		female/
prenatal 		AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM AMA, no info available {0} provided by Dr. Manolakis, Athens, Greece
15-
U-
224 		female/
prenatal 		AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM AMA, no info available {0} provided by Dr. Manolakis, Athens, Greece
15-
U-
224 to 242 		n.a./
prenatal
AF 		n.a. 47,XN,+mar[?%] inv dup(15) cen-probes no info available {344} 17 cases; AF-5
15-
U-
243 to 244 		n.a./
prenatal
AF 		n.a. n.a. mar(15) cen-probes no info available {356} 2 cases
15-
U-
245 		see 15-Uc-13
15-
U-
246 		n.a./
prenatal 		AF n.a. 47,XN,+mar[50%]/
46,XN[50%] 		inv dup(15)(q11.2)
aCGH: 30.91 Mb 		aCGH n.a. {363} case 2
15-
U-
247 		male/
prenatal 		AF de novo 47,XY,+mar[100%] inv dup(15)(q11.2) cen;
subcenM 		n.a. {0} provided by Dr. Stumm, Berlin, Germany
15-
U-
248 		female/
prenatal 		CH n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) cen;
subcenM 		AMA {0} provided by Dr. Cramer, Essen, Germany
15-
U-
249		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) cen;
subcenM		 AMA {0} provided by Dr. Privrodski, Serbia
15-
U-
250		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM AMA {0} provided from Portugal
15-
U-
251 		male/
prenatal 		AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) cep;
subcenM 		AMA {0} provided from Portugal
15-
U-
252 		male/
prenatal 		AF n.a. 47,XY,+mar[90%]/
46,XY[10%] 		inv dup(15)(q11.1) cep;
subcenM 		n.a. {0} provided from Portugal
15-
U-
253 		female/
prenatal 		AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) cep;
subcenM 		n.a. {0} provided from Portugal
15-
U-
254 		male/
prenatal 		AF n.a. 47,XY,+mar[100%] inv dup(15)(q12~13) cep,
subcenM 		n.a. {0} provided by W. Trawiki, Essen, Germany
15-
U-
255 		male/
prenatal 		AF n.a. 47,XY,+mar[100%] min(15)(:p11.2→q11.1:) cep;
subcenM; SNRPN 		n.a. {0} provided by Dr. Schulze, Hannover, Germany
15-
U-
256		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) cep;
subcenM; SNRPN		 n.a. {0} provided by Genomedica, Greece
15-
U-
257		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] inv dup(15)(q13) cep; UBE3A n.a. {0} provided by W. Trawiki, Essen, Germany
15-
U-
258		 female/
1y		 PBL n.a. 47,XX,+mar[100%] inv dup(15)(q12) cep; UBE3A abnormal phenotype; like AS {0} provided from Hungary
15-
U-
259		 female/
newborn		 PBL, fibros
 n.a. PBL: 47,XX,r(15),+mar[82]/
46,XX,r(15)[18]
fibroblasts 47,XX,r(15),+mar[52]		 del(15)(p11.2)
aCGH: break in 25.4 Mb (hg19); r(15) => break in 101.4 Mb		 cep SNRPN, aCGH, UPD test seizures, growth delay, DD {273}
15-
U-
260		 male/
prenatal		 AF n.a. 47,XY,+mar[7]/
46,XY[13]
min(15)(:p11.1→q11.1:) cep; subcenM AMA, sonography normal {0} provided by G. Hickmann, Essen, Germany
15-
U-
261		 male/
prenatal		 AF n.a. 51,XY,+marx5[1]/
49,XY,+marx3[14]/
48,XY,+marx2[28]/
47,XY,+mar[12]/46,XY[5]		 inv dup(15)(q11.1) cep
 AMA, sonography normal {0} provided from Portugal
15-
U-
262		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) cep n.a. {0} provided by A. Cramer, Essen, Germany
15-
U-
263		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) cep
 n.a. {0} provided from Essen, Germany
15-
U-
264		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) cep n.a. {0} provided from Greece
15-
U-
265 to 278
 n.a./
prenatal		 AF n.a. 47,+mar[?100%] mar(15) n.a. n.a. {390} 14 cases
15-
U-
279
 male/
prenatal		 AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) cep AMA {0} provided from Nürnberg, Germany
15-
U-
280
 female/
prenatal		 Ch n.a. 48,XX,+mar,+mar[100%] inv dup(15)(q11.1) cep n.a. {0} provided from Leipzig, Germany
15-
U-
281
 male/
1y		 PBL de novo
 47,XY,+mar[100%] inv dup(15)(q11.1) cep no speach; potentially Angelman syndrome
{403}
15-
U-
282 to 287
 n.a./
3x prenatal
2x postnatal
 AF/PBL n.a.
 47,XN,+mar[?100%] inv dup(15) cep n.a.
{406} 5 cases
15-
U-
288		 male/
prenatal		 AF de novo 47,XY,+mar[7]/
46,XY[10]		 del(15)(q10) cenM
 AMA, sonography normal {0} provided from Portugal
15-
U-
289		 female/
4y
 PBL n.a. 47,XX,+mar[100%] min(15)(:p11.1→q11.1:) cep, aCGH
 dwarfsim, DD {0} provided from Dortmund, Germany
15-
U-
290		 male/
5y
 PBL n.a. 47,XY,+mar[6]/
46,XY[24]		 inv dup(15)(q11.1)
arr[GRCh37] 19p12(20263534_
24340741)x3[0.25]
no proof for 19 material on sSMC
 cep, aCGH
  DD, Angelman syndrome like
 {0} provided from Recklinghausen, Germany
15-
U-
291		 female/
prenatal
 AF n.a. 47,XX,+mar[25%]/
46,XX[75%]		 del(15)(q1?5) cep, subcenM, SNRPN
 anxiousity; no sonographic signs
 {0} provided from Greece
15-
U-
292		 male/
prenatal
 AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.2) RP11-307C10++ cep, subcenM, SNRPN
 AMA
 {0} provided from Greece
15-
U-
293		 male/
prenatal
 AF de novo
 47,XY,+mar[100%] inv dup(15)(q11.1)* cep, SNRPN
 AMA
 {414}


Cases with complex sSMC (Uc)


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-
Uc-1
(Y)		 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; 335}
{253} case 109
15-
Uc-2
(Y)		 male/
prenatal		 AF de novo 47,XY,+mar[100%] der(15)t(Y;15)(q12;q22) all available centromeric probes; wcp 15 AMA; no ultrasound abnormalities; TOP; no autopsy {36} case 8; {335}
15-
Uc-3
(?)		 female/
14y		 PBL de novo 47,XX,+mar[100%] der(15)t(15;?)(q24;?) all available centromeric probes; wcp 15,X,Y,8,12, 14,19,22 aggressive behavior, concentration and learning disabilities, prominent nose, small mouth, broad neck, small thorax, funnel chest, cubitus valgus, diffuse hyper pigmentation {35} case 27; {335}
15-
Uc-4
(22)		 male/
prenatal		 AF de novo 47,XY,+mar[100%] dic(15;22)(15q11.1;22q22.1) cep 14/22; cep 15; characterization of #22 by p-arm polymorphism analysis AMA; no ultrasound abnormalities; TOP; autopsy revealed a normal fetus {30} case 1; {335}
15-
Uc-5
(16)		 female/
prenatal		 AF maternal balanced t(15;16) 47,XX,+mar[100%] der(15)t(15;16)(q13;p13.2) wcp probes see below {146; 335}
6mm nuchal translucency in week 13+; at week 23: hydrops fetalis, micrognathia, distal limb abnormalities, two-vessel umbilical cord, Polyhydramnion; TOP in week 27; autopsy also detected flat face, hypertelorism, incomplete separation of maxillae and mandible, ascites.
15-
Uc-6
(16)		 n.a./
n.a.		 n.a. n.a. 47,+mar[?%] mar(15;16) wcp probes no info available {258} 1 case; {335}
15-
Uc-7
(16)		 male/
newborn		 PBL mat 47,XY,+mar[100%] der(15)t(15;16)(q13;q13) SKY microcephaly DYS, tetralogy fallot, child dies with 11 months {312; 335}
15-
Uc-8
(16)		 female/
6y		 PBL mat; grandpat 47,XX,+mar[100%] der(15)t(15;16)(q13;p13.2) wcp FISH and aCGH DYS, microsomia, hearing and speech impairment {313; 335; 350}
15-
Uc-9
(13)		 female/
2y		 PBL n.a. 47,XX,+mar[16]/
46,XX[14]		 inv dup(13;15)(p11.2p11.2) cep probe moderate psychomotor retardation, slight DYS {259} first case; {335}
15-
Uc-10
(13)		 male/
adult		 PBL
(EKF-
cellbank)		 n.a. 46,XY,t(13;15),mar 46,XY,t(13;15)(p11.2;q13.2) subcenM normal, but son with PWS and sSMC lacking {340} case 1
15-
Uc-11
(9)		 female/
prenatal		 AF maternal (bal. transloc.) 47,XX,+mar[100%] der(15)t(9;15)(p12;q14) MLPA: wcps ascites, AMA {300} case 14; {335}
15-
Uc-12
(8)		 male/
postnatal		 PBL de novo 47,XY,+mar[100%] der(15)t(8;15)(p23.2;q21.3)
aCGH: chr. 15: 18,432,558-42,028,443 MB and chr. 18: 0,209,683-9,757,798 MB		 midi, rev FISH, subcenM MR {335}
15-
Uc-13
(10)		 female/
6m		 PBL pat 47,XX,+mar[100%] der(15)t(10;15)(q26.3;q11.2) aCGH mild DYS; otherwise healthy {360}
15-
Uc-14
(17)		 male/
prenatal		 AF mat
balanced t(15;17)		 47,XY,+mar[100] der(15)t(15;17)(q12;q25.3) subtel 17qter; cep 15 sonographic abnormal {335}
15-
Uc-15
(18)		 male/
45y		 PBL n.a. 47,XY,+mar[100%] der(15)t(15;18)(q11.1;p11.1~11.21)
aCGH: chr. 15: 18,362,555-20,042,737 MB and chr. 18: 0,108,760-16,783,908		 midi, rev FISH severe osteoporosis and feminine body, fertile {335}
15-
Uc-16
(9)		 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; 335}
{253} case 75 and 108
15-
Uc-17
(9)		 male/
newborn		 PBL de novo
 47,XY,+mar[100%] der(15)t(9;15)(p11;q11) wcps DYS; DD; heart defects {380}
 case 1
15-
Uc-18
(9)		 female/
newborn		 PBL n.a.
 47,XX,+mar[100%] der(15)t(9;15)(p11;q11) wcps DYS; DD; seizures in both twins  {380}
 cases 2 and 3
15-
Uc-19
(9)		 male/
postnatal		 PBL paternal
t(9;15) 		47,XY,+mar[100%] der(15)t(9;15)(p13.2;q34.12) FISH DYS; DD; hypotonia {391}
15-
Uc-20
(21)		 male/
postnatal		 PBL maternal
t(15;21) 		47,XY,+mar[100%] der(15)t(15;21)(q26.2;q21) n.a. DYS; DD {392}
15-
Uc-21
(9)		 male/
7y		 PBL maternal
t(9;15) 		47,XY,+mar[100%] der(15)t(9;15)(p21.2;q13.2) FISH, midi, CMA
DYS; DD; hypotonia {411}
15-
Uc-21
(8)		 female/
16y		 PBL maternal
t(8;15) 		47,XX,+mar[100%] der(15)t(8;15)(p24.2;q14) n.a.
DYS; DD {412}


Cases with discontinous sSMC (Ud)

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-
Ud-
1		 male/
adult		 PBL/ sperm mat 47,XY,+mar[100%] ?*der(15)(pter→p11.2::q11.1→
q11.2::p11.2→pter)		 M-FISH; centromeric probes normal male and mother; male infertile {365}
15-
Ud-
2
 male/
5y		 PBL de novo 47,XY,+mar[80%]/
46,XX[20%]
der(15)(:q12→p11.1::q11.2→q12:
:q12→q11.2::p13→pter)		 ceps , SNRPN, subcenM MR {0}
15-
Ud-
3		 male/
newborn		 PBL
(EKF-
cellbank)		 de novo 48,XY,+marx2[100%] der(15)(pter→q13.1~13.2: :q13.3→q14::q14→q13.3: :q13.1~13.2→pter) FISH
UPD-test		 Angelmansyndrome like phenotype; no UPD; no mutation in UBE3A {0}
15-
Ud-
4		 female/
6y		 PBL n.a. 47,XX,+mar[32]/
46,XX[68]		 discontinous r(15) aCGH; FISH DD, MR {366} case 2
15-
Ud-
5		 female/
3m		 PBL
(EKF-
cellbank)		 de novo 47,XX,+mar[25%]/
46,XX[75%]		 der(15)(:q14→q13:
:q14→p11.1:
:p11.1→q14:
:q13→q14:)
FISH-data: UBE3A at 23.2MB on sSMC
aCGH: 18,432,558-31,408,000 MB		 cenM, subcenM UBE3A, PML; UPD-test;
aCGH		 DD, MR {320} case 16
15-
Ud-
6
 male/
newborn and at 3y		 PBL de novo 47,XY,+mar[?%]/
46,XY[?%]		 der(15)(:pter→q14:
:q15.3→q26.2:
:q26.2→q15.3:
:q11.1→pter:)
FISH-and array-data: 18.37-36.19MB is once on the sSMC and 85.87-93.64MB is twice on sSMC
sSMC derived from maternal chromosome 15		 M-FISH, aCGH, BAC-FISH; UPD-test see below {276}
DYS and DD; during pregnancy hydrops fetalis; at birth: mild dysmorphism, hypotonia, bilateral clubfeet, at 40m: low weight, microcephaly, tall forehead, ptosis, deep-set ears, beaked nose, carp mouth, thin lips, mandibular retrognathia, high palate, low set ears, large fingers, muscular hypotonic.
15-
Ud-
7		 female/
9y		 PBL de novo 49,XX,+marx3[1]/ 47,XX,+mar[9]/
46,XX[10]		 der(15)(:q14→p1?2:
:p1?2→q14:)x3[1]/
der(15)(:q14→p1?2:
:p1?2→q14:)[2]/
del(15)(q14)[7]		 n.a. MR {0} provided by family
15-
Ud-
8
 male/
prenatal		 AF de novo 47,XY,+del(15) discontinous acc. to aCGH: 18.75-18.93, 20.52-20.67, 21.52-25.88, 28.92-34.53, 35.78-47.50, 95.83-100.17 aCGH AMA, n.a. {344} case AF-4
15-
Ud-
9		 female/
prenatal		 PBL n.a. 47,XX,+mar[20] der(15)(p13→q?13::q?
13 or q?→q? or q?13:)		 M-FISH; cenM n.a. {3} case 8
{4} case 8
15-
Ud-
10
 male/
prenatal		 AF de novo 47,XY,+mar[30%]/
46,XY[70%]		 r(15)(::p11.1→q11.1:
:q11.2→q13:
:q13→q11.2:
:q11.1→p11.1::)
.ish(D15S10-;SNRPN++)		 cenM;
subcenM;
SNRPN; D15S10; UPD-test		 AMA; no ultrasound abnormalities {0} provided by Dr. H. Heilbronner, (Stuttgart, Germany)
15-
Ud-
11
 female/
1y		 PBL de novo 47,XX,+mar[26]/
46,XX[4]		 der(15)(pter→q13.3:
:q13.1 or q11.2→q11.2 or q13.1:)		 aCGH, FISH, UPD-test seizures and DD at 7y {378}
15-
Ud-
12
 male/
newborn		 PBL de novo 47,XY,+mar[100%]
 del(15)(q12q23)
UPD 15
 aCGH, FISH, UPD-test PWS {417}

Cases with UPD (Uu)

UPD(15) see below PWS/ AS - other UPD here
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-
Uu-
1 		n.a./
prenatal 		AF de novo 47,XN,+mar[?100%] inv dup(15)(q11.1)
UPD(14)pat
 		different FISH probes: (cep 15; wcp 15); UPD-test Kagami-Ogata syndrome {415}


Cases with UPD maternal UPD - Prader Willi Syndrome (P)

Some additionally reports with SMC in PWS cases in the pre-FISH-era are available in the literature and not listed here like e.g. {22}; in {73} review of such cases before 1986 (some of them included in list , as well).

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-
P-
1 		male/
5y 		PBL de novo 47,XY,+r(?)[70%]/
46,XY[30%] 		r(15);
no PWS-region on ring and del of PWS on one normal chr. 15;
no UPD 15 		different FISH probes: (cep 15; wcp 15); UPD-test Prader Willi syndrome {17} case 1
15-
P-
2 		female/
9m 		PBL de novo 47,XX,+r(?)[50%]/
46,XX[50%] 		mar(X)
mat UPD 15 		different FISH probes:
(wcp X); UPD-test 		Prader Willi syndrome {17} case 2; {330}
15-
P-
3		 female/
postnatal 		PBL n.a. 47,XX,+mar[25%]/
46,XX[75%] 		mar(15).ish (15Z1+,pTRA-25+,D15S18-)
matUPD 15
heterodisomy 		different FISH probes:
(wcp 15, cep 15 - see left field); UPD-test 		Prader Willi syndrome {257} 1 case
{330}
15-
P-
4 		male/
postnatal 		PBL n.a. 47,XY,+mar[25]/
46,XY[5] 		mar(15).ish (15Z1+,SNRPN-)
matUPD 15 		SNRPN, UPD-test Prader Willi syndrome {316}
case 3
{330}
15-
P-
5 		female/
postnatal		 PBL n.a. 47,XX,+mar[26]/
46,XX[4] 		mar(15).ish (15Z1+,SNRPN-)
matUPD 15 		SNRPN, UPD-test Prader Willi syndrome {316}
case 4
{330}
15-
P-
6		 n.a./
postnatal 		PBL n.a. 47,+mar[8%]/
46[92%] 		inv dup(15)
maternal UPD 15 		molecular genetics; UPD-test Prader Willi syndrome {294}
15-
P-
7		 male/
6y		 PBL de novo 47,XY,+mar[46]/
46,XY[54]		 inv dup(22)(q11.1)
maternal UPD 15		 cep probes; UPD-test Prader Willi syndrome {304}
15-
P-
q1?/
1-1		 female/
35y		 PBL de novo 47,XX,+min(15)(q1?)[60%]/
46,XX[40%]*		 n.a. n.a. Prader Willi syndrome {68}
15-
P-
q11/
1-1		 female/
n.a.		 PBL de novo 47,XX,+inv dup(15)(q11)[80%]/
46,XX[20%]		 n.a. n.a. Prader Willi syndrome {18}
15-
P-
q11/
1-2		 male/
12y 		PBL de novo 47,XY,+inv dup(15)(q11)[70%]/
46,XY[30%] 		n.a.
maternal UPD 15 		n.a.; UPD-test Prader Willi syndrome {19} case 2
{330}
15-
P-
q11/
1-3		 female/
3y 		PBL de novo 47,XX,+inv dup(15)(q11)[100%] n.a. n.a. Prader Willi syndrome {23}
15-
P-
q11/
1-4		 male/
26y 		PBL de novo 47,XY,+inv dup(15)(q11)[100]* inv dup (15)(q11)
maternal UPD 15 		n.a.; UPD-test Prader Willi syndrome {45; 46}
15-
P-
q11/
1-5		 male/
33y 		PBL de novo 47,XY,+inv dup(15)(q11)[24]/
46,XY[29] 		inv dup (15)(q11)
maternal UPD 15 		centromeric probe 15 and 6 single copy probes from 15q11 to 15q13; UPD-test Prader Willi syndrome {47} case WJK303
{330}
15-
P-
q11/
1-6		 male/
17y 		PBL de novo 47,XY,+inv dup(15)(q11~q12) n.a. n.a. Prader Willi syndrome {64}
15-
P-
q11/
1-7		 female/
18y		 PBL de novo 47,XX,+inv dup(15)(q11~q12)[41]/46,XX[59] n.a. n.a. Prader Willi syndrome {140}
15-
P-
q11/
1-8		 female/
17y 		PBL de novo 47,XX,+inv dup(15)(q11)*[100%] n.a. n.a. Prader Willi syndrome {59}
15-
P-
q11/
1-9		 male/