TL

ChromosOmics - Database

- CHROMOSOME 15 -
- unclear if maternal or paternal UPD -

UPD MATERNAL CHR . 15	UPD PATERNAL CHR . 15
UPD-cases without clinical findings + normal karyotype	UPD-cases with or unclear clinical correlation + normal karyotype
UPD-cases without clinical findings + balanced karyotype	UPD-cases with or unclear clinical correlation + balanced karyotype
UPD-cases without clinical findings + sSMC	UPD-cases with or unclear clinical correlation + sSMC
segmental UPD-cases without clinical findings	segmental UPD-cases with or unclear clinical correlation
UPD-cases without clinical findings + other imbalances	UPD-cases with or unclear clinical correlation + other imbalances
References

mat or pat UPD-cases without clinical findings + normal karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- OU-N/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- OU-N/ mos/ 1-1	-	-	-	-	-	-

mat or pat UPD-cases without clinical findings + balanced karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- OU-bal/ 1-1	-	-	-	-	-	-

mat or pat UPD-cases without clinical findings + sSMC

case no.	case no. in sSMC database	gender/ age at diagnosis	studied material	GTG-banding result	final FISH result of the sSMC	FISH methods	clinical symptoms	reference
15- OU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental mat or pat UPD-cases without clinical findings

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- OU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- OU-seg/ / mos/ 1-1	-	-	-	-	-	-

mat or pat UPD-cases without clinical findings + other imbalances

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- OU-imb/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- OU-imb/ mos/ 1-1	-	-	-	-	-	-

mat or pat UPD-cases with or unclear clinical correlation + normal karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- WU-N/ 1-1	n.a.	prenatal	AF	46,XN	abnormal sonography	{899} 1 case
15- WU-N/ 2-1	n.a.	postnatal	PBL	n.a.	abnormal	{947} case 227a
15- WU-N/ 3-1	n.a.	n.a.	n.a.	n.a.	paternity testing	{1156} 1 case
15- WU-N/ 4-1 to 20-1	n.a.	postnatal	PBL	46,XN	different neurodev. disorders	{1300} 17 cases

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- WU-N/ mos/ 1-1	-	-	-	-	-	-

mat or pat UPD-cases with or unclear clinical correlation+ balanced karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- WU-bal/ 1-1	-	-	-	-	-	-

mat or pat UPD-cases with or unclear clinical findings + sSMC

case no.	case no. in sSMC database	gender/ age at diagnosis	studied material	GTG-banding result	final FISH result of the sSMC	FISH methods	clinical symptoms	reference
15- WU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental mat or pat UPD-cases with or unclear clinical correlation

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- WU-seg/ 1-1	n.a.	n.a.	PBL	n.a. --- exact localization not reported - only size of 6 MB	severe global DD	{652} case 21
15- WU-seg/ 2-1	n.a.	n.a.	PBL	n.a. --- exact localization not reported - only size of 30 MB	hypotonia in newborn	{652} case 22
15- WU-seg/ 3-1	n.a.	n.a.	PBL	n.a. --- exact localization not reported - only size of 34 MB	?PWS	{652} case 23
15- WU-seg/ q11.2/ 1-1	n.a.	~3y	PBL	n.a. --- 15q11.2 (size 1.068 Mb)	intellectual diability, DYS, feeding problems, DD	{924} case 10
15- WU-seg/ q11.2/ 2-1	n.a.	4y	PBL	n.a. --- 15q11.2 (size 1.158 Mb)	intellectual diability, DYS, hyperactive, DYS, seizures	{924} case 11
15- WU-seg/ q11.2/ 3-1	n.a.	5y	PBL	n.a. --- 15q11.2 (size 1.002 Mb)	intellectual diability, DYS, hyperactive, DYS, seizures	{924} case 12
15- WU-seg/ q11.2/ 4-1	n.a.	5y	PBL	n.a. --- 15q11.2 (size 1.067 Mb)	DD, autism, DYS	{924} case 13
15- WU-seg/ q11.2/ 5-1	n.a.	18y	PBL	n.a. --- 15q11.2 (size 1.224 Mb)	intellectual diability, others	{924} case 14
15- WU-seg/ q21.3/ 1-1	n.a.	n.a	PBL	n.a. --- 15q21.3 to q24.1 (only iUPD of this region)	no PWS, or AS most likely dymorphic and MR no gene identified	{828; 1170} 1 case
15- WU-seg/ q23/ 1-1	n.a.	prenatal	fibroblasts	n.a. --- 15q23 to q24.1 (only iUPD of this region studied)	abortion	{1042} case C-1140

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- WU-seg/ q22.31/ mos/ 1-1	n.a.	prenatal	CH	n.a. --- 15q22.31 to 15qter 64.73 Mb [hg19] 30% mos	sonograph. abnomalies	{1363} case 31

mat or pat UPD-cases with or unclear clinical correlation + other imbalances

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- WU-imb/ 1-1	n.a.	prenatal	free fetal DNA	mos 47,+15/46	n.a.	{878; 887}
15- WU-imb/ 1-2 to 1-3	n.a.	prenatal	chorion	mos 47,+15/46	n.a.	{902; 1057; 1058; 1059} overall 2 cases
15- WU-imb/ 1-4 to 1-5	n.a.	n.a.	n.a.	mos 47,+15/46	n.a.	{1170} 2 cases
15- WU-imb/ 1-6 to 1-8	n.a.	prenatal	n.a.	mos 47,+15/46	n.a.	{1190} 3 cases

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- WU-imb/ mos/ 1-1	n.a.	12y	PBL	n.a. --- 15q13.3 to 15q15.2 15q15.2 to 15q22.31 15q22.31 to 15qter size overall 71.24 Mb [hg19] 15, 46 and 75% mos in aCGH also mosaic del(15)(q25.1q25.3)	clinically abnormal, incl. short stature; microdel 15q25.2 like	{1363} case 30