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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from Germany
15-
U-
210 		female/
prenatal 		AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.2) acrocenM, subcenM n.a. {0} provided from 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 from Israel
15-
U-
212 		male/
prenatal 		AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM, subcenM n.a. {0} provided from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from 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 from Germany
15-
U-
248 		female/
prenatal 		CH n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) cen;
subcenM 		AMA {0} provided from Germany
15-
U-
249		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] inv dup(15)(q11.1) cen;
subcenM		 AMA {0} provided from 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 from 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 from 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 from Greece
15-
U-
257		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] inv dup(15)(q13) cep; UBE3A n.a. {0} provided from 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 from 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 from Germany
15-
U-
263		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) cep
 n.a. {0} provided from 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 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 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  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 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}
15-
U-
294		 male/
prenatal
 AF n.a.
 47,XY,+mar[100%] inv dup(15)(q11.2) cep, RP11-307C10++
 AMA
 {0} provided from Germany
15-
U-
295		 male/
prenatal
 CH n.a.
 47,XY,+mar inv dup(15)(q11.2) cep, RP11-307C10++
 AMA
 {0} provided from Germany
15-
U-
296		 male/
3y
 PBL n.a.
 47,XY,+mar[18]/
46,XY[32]		 inv dup(15)(q11.1) cep, subcenM
 Developmental delay, speech disorder, anemia, tendency to fall, median neck cyst
 {0} provided from Germany
15-
U-
297		 female/
prenatal
 AF n.a.
 47,XX,+mar[100%] inv dup(15)(q11.1) cep
 AMA
 {0} provided from Greece
15-
U-
298		 male/
prenatal
 AF de novo
 47,XY,+mar[49]/
46,XY[3]
inv dup(15)(q11.1) cep
 Further clarification as the NIPT indicates trisomy 13
 {0} provided from Germany
15-
U-
299 to 300
 n.a./
prenatal
 AF n.a., mat
 47,XN,+mar/
46,XN
 mar(15)
 aCGH
 TOP
 {422} cases 3, 5


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}
15-
Uc-22
(6)		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] der(15)t(6;15)(p25.3;q13.2) aCGH
 TOP {419} case 9


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 from 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/
16m 		PBL de novo 47,XY,+inv dup(15)(q11)[100%] n.a. n.a. Prader Willi syndrome {72} case 9
15-
P-
q11/
1-10		 male/
2y8m 		PBL de novo 47,XY,+inv dup(15)(q11)[30]/
46,XY[10] 		n.a. n.a. Prader Willi syndrome {117} case 1
15-
P-
q11/
1-11		 male/
8y 		PBL de novo 47,XY,+inv dup(15)(q11)[8]/
46,XY[7] 		n.a. n.a. Prader Willi syndrome {117} case 2
15-
P-
q11/
1-12		 male/
2y 		PBL de novo 47,XY,+mar[100%] mar(15) CGH Prader Willi syndrome {43} case 3
15-
P-
q11/
1-13		 female/
prenatal 		PBL de novo 47,XX,+inv dup(15)(q11)[100%] inv dup(15)(q11)
maternal UPD 15 		cep probes wcp 15, PWS specific probes; UPD-test Prader Willi syndrome {223} case 4
15-
P-
q11/
1-14		 female/
17y		 PBL n.a. 7,XX,+mar[70%]/
46,XX[30%]		 inv dup(15)(q11)
maternal UPD 15		 cep probes wcp 15, PWS specific probes; UPD-test Prader Willi syndrome {338}
15-
P-
q11.1/
1-1		 male/
1m		 PBL de novo 47,XY,+mar[70%]/
46,XY[30%]		 min(15)(pter→q11.1:)
maternal UPD 15		 cenM; subcenM; UPD-test Prader Willi syndrome {168, 330}
15-
P-
q11.1/
1-2		 female/
13y		 PBL de novo 47,XX,+mar[100%] min(15)(pter→q11.2:)
maternal UPD 15		 cep 15; LSI SNRPN; UPD-test Prader Willi syndrome {147}
15-
P-
q11.1/
2-1		 female/
12y		 PBL de novo 47,XX,del(15)(q11.200→q11.207), +inv dup(15)(q11.1)[100%] n.a. n.a. Prader Willi syndrome {58} case 2
15-
P-
q11.1/
2-2 		female/
1m 		PBL de novo 47,XX,+mar[55%]/
46,XX[45%] 		inv dup(15)(q11.1)
maternal UPD 15
sSMC derived from maternal chromosome 15 		centromeric probes; UPD-test Prader Willi syndrome {164, 330}
15-
P-
q11.1/
2-3 		n.a./
13y 		PBL n.a. 47,+mar[?%]/
46[?%] 		inv dup(15)(q11.1)
no UPD 15 		centromeric probes; UPD-test Prader Willi syndrome due to microdeletion {287} case 41
15-
P-
q11.1/
2-4 to
 2-5 		n.a./
prenatal 		AF de novo 47,+mar[?%]/
46[?%]
inv dup(15)(q11.1)*
maternal UPD 15 		centromeric probes ?; UPD-test Prader Willi syndrome {290, 330} 2 cases
15-
P-
q11.1/
2-6 		male/
prenatal 		AF de novo 47,XY,+mar[39%]/
46,XY[61?%] 		inv dup(15)(q11.1)*
maternal UPD 15 		centromeric probes ?; UPD-test Prader Willi syndrome {291, 330}
15-
P-
q11.1/
2-7		 female/
prenatal		 AF n.a. 47,XX,+mar[50%]/
46,XX[50%]		 inv dup(15)(q11.1)
maternal UPD 15		 acrocenM, subcenM; UPD-test Prader Willi syndrome
AMA - pregnancy continued
 		{330}
15-
P-
q11.1/
2-8		 female/
9y		 PBL n.a. 47,XX,+mar[52]/
46,XX[8]		 inv dup(15)(q11.1)
maternal UPD 15		 cep; UPD-test Prader Willi syndrome
 		{0} provided from Greece

15-
P-
q11~
13/
1-1		 male/
29y		 PBL de novo 47,XY,+mar [85%]/
46,XY[15%]		 inv dup(15)(pter→q11: :q13→pter)*
maternal UPD 15		 YAC probes as specified in {57}; UPD-test Prader Willi syndrome {57} case 13
{330}
15-
P-
q11~
13/
1-2		 male/
1 w		 PBL de novo 47,XY,+mar[16%]/
46,XY[84%]		 r(15)(::p11.1→q11.1~q13::)
maternal UPD 15
sSMC derived from paternal chromosome 15		 all cep;
SNRPN;
D15Z4 ; UPD-test		 Prader Willi syndrome {152, 330}
result of an in vitro fertilization procedure; intrauterine growth retardation was detected by ultrasound; and fetal movements in the low range. Birth was induced at 35 weeks because of fetal distress. Apgar score 1 at 1 min and 8 at 5 min; birth weight 1.290 kg; generalized hypotonia both testes were palpated in the inguinal region and were surgically reduced, the penis was small. At that time he weighed 2.490 kg and the mother complained of feeding difficulties. walking at 3 years; first words at3.5 years, excessive eating started at 3 years, his weight at 3.5 years was 18 kg ([gt]97%) and his height was 93 cm (50%). facial appearance was typical for Prader-Will syndrome (PWS)
15-
P-
q11.2/
2-1		 female/
4m		 PBL/skin fibroblasts de novo 45,XX,trob(15;15)[34]/
46,XX,trob(15;15),+mar1[41]/
46,XX,trob(15;15),+mar2[2]/
46,XX,trob(15;15),+mar1x2[0]
(in fibroblasts: 60/130/8/2)		 mar1 = r(15)(::p11.1→q11.2::)
mar2 = r(15;15)(::p11.1→q11.2:
:p11.1→q11.2::)		 n.a. Prader Willi syndrome
{58} case 1
15-
P-
q11.2/
3-1		 female/
postnatal		 PBL n.a. 47,XX,inv(13)(q22q34),+mar[3]/
46,XX,inv(13)(q22q34)[56]		 inv dup(15)(q11.2)
maternal UPD 15		 SNRPN, cep15, UPD test Prader Willi syndrome {316}
case 1
15-
P-
q11.2/
3-2		 female/
prenatal		 AF n.a. 47,XX,+mar[37]/
46,XX[7]		 inv dup(15)(q11.2)
maternal UPD 15		 SNRPN, cep15, UPD test Prader Willi syndrome {0} provided from Serbia
15-
P-
q11.2/
4-1		 male/
17y		 PBL materanal translocation
 47,XY,+mar[100%] der(15)t(3;15)(p25;q11.2)
maternal UPD 15		 FISH Prader Willi syndrome {339} case JB
15-
P-
q12/
1-1		 male/
16y		 PBL/skin fibroblasts de novo 48,X,t(Y;15)(q21;q12),
+inv dup(15)x2[2/1]/
47,X,t(Y;15)(q21;q12),
+inv dup(15)[38/5]/
46,X,t(Y;15)(q21;q12)[41/89]		 n.a. n.a. Prader Willi syndrome {24} case 1
15-
P-
q12/
2-1		 male/
11.5y		 PBL de novo 47,XY,+min(15)(pter→q12:)[100%] n.a. n.a. Prader Willi syndrome {60}
15-
P-
q12/
2-2		 male/
23y		 PBL de novo 47,XY,+min(15)(pter→q12~3:)*[100%] n.a. n.a. Prader Willi syndrome {103}
15-
P-
q12/
2-3		 female/
16m		 PBL de novo 47,XX,+mar[20%]/
46,XX[80%]		 inv dup(15)(q12~13)
FISH-data: SNRPN at 22.8MB on sSMC
maternal UPD 15		 SNRPN; UPD-test Prader Willi syndrome {293}
15-
P-
q12/
2-4		 female PBL n.a. 47,XX,+mar[3]/
46,XX[17]		 inv dup(15)(q12~13)
FISH-data: SNRPN at 22.8MB on sSMC
maternal UPD 15		 SNRPN; UPD-test Prader Willi syndrome {316}
case 2
15-
P-
q13.1 + q13.3/
1-1		 male/
2y		 PBL de novo 47,XY,+mar[100%] inv dup(15)(pter→q13.1:
:q13.3→pter)
breaks n.a.
UPD(15)mat
 aCGH Prader Willi syndrome {393}
15-
P-
q21/
1-1		 male/
n.a.		 PBL de novo 47,XY,+min(15)(pter→q21:)*[100%] n.a. n.a. Prader Willi syndrome {103} personally communicated by Lubunski


Cases with UPD paternal UPD - Angelman phenotype (A)

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-
A-
q11/
1-1		 male/
4y		 PBL de novo 47,XY,+inv dup(15)(q11)[60%]/
46,XY[40%]		 n.a.
paternal UPD 15		 n.a.; UPD-test Angelman syndrome {19} case 1; {294, 330}
15-
A-
q11/
1-2		 male/
18m		 PBL de novo 47,XY,+mar[50] inv dup(15)(q11)
paternal UPD 15		 FISH with D15S63; cen15; UPD-test Angelman syndrome {78; 79}
15-
A-
q11/
2-1		 female/
14m		 PBL de novo 47,XX,+r[50] r(15)(::p?→q1?1::)*
del(SNRPN) on one 'normal' chromosome		 multiprobe FISH; SNRPN Angelman syndrome {155}
15-
A-
q11.1/
1-1		 female/
postnatal		 PBL n.a. 47,XX,+mar[100%] inv dup(15)(q11.1)
paternal UPD 15		 cep; UPD test Angelman syndrome {0} provided from Maroc
15-
A-
q11.1/
1-2
female/
1y		 PBL n.a. 47,XX,+mar[100%] inv dup(15)(q11.1)
paternal UPD 15		 acrocenM, subcenM
UPD-test		 Angelman syndrome {0} provided from Germany
15-
A-
q11.1/
1-3		 male/
7y		 PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.1)
paternal UPD 15		 subcenM Angelman syndrome {389}
15-
A-
q11.2/
1-1		 male/
prenatal		 AF n.a. culture 1: 47,XY,+mar[100]
culture 2: mar only in 32%		 inv dup(15)(q11.2)
aCGH: 0.00-21.29 MB
paternal UPD 15		 cenM; subcenM; UBE3A; aCGH; UPD-test Angelman syndrome {330}
15-
A-
q11~12/
1-1		 male/
2.5y		 PBL de novo 47,XY,del(15)(q11→q13),+mar[50] inv dup(15)(q11~12)* FISH with D15Z2 and GABRB3 Angelman syndrome {61}
15-
A-
q13/
1-1		 male/
6y		 PBL de novo 47,XY,+mar[50] inv dup(15)(q13) FISH with D15Z2 and GABRB3 Angelman syndrome {20} case 1
15-
A-
q13/
1-2		 male/
13y		 PBL de novo 47,XY,+mar[50] inv dup(15)(q13) FISH with D15Z2 and GABRB3 Angelman syndrome {20} case 2
15-
A-
q13/
2-1		 female/
child		 PBL mat 47,XX,+mar[100%]
UPD(15)pat		 inv dup(22)(q11.1)
SKY; subcenM		 Angelman syndrome {368}
daughter of case 22-O-
q11.1/
1-67