TL

ChromosOmics - Database

- CHROMOSOME 13 -
- unclear if maternal or paternal UPD -

UPD MATERNAL CHR . 13	UPD PATERNAL CHR . 13
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
13- OU-N/ 1-2	n.a.	adult	PBL	n.a.	most likely normal, maybe schizophrenia	{912} 1 case

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
13- OU-N/ mos/ 1-1	n.a.	adult	PBL	n.a.; acc. to array no imbalance in PBL whole chromosome UPD 13 in 18% of the cells	normal adult with bladder cancer	{545} case 234

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
13- 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
- 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
13- OU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
13- OU-seg/ q12.1/ mos/ 1-1	n.a.	adult	PBL	n.a.; acc. to array no imbalance in PBL --- 13q12.1 to 13qter (in 28% of PBL) and 17pter to 17p11.2 (in 39% of PBL)	normal adult with bladder cancer	{545} case 962
13- OU-seg/ q12.3/ mos/ 1-1	n.a.	5.3y	PBL	n.a.; acc. to array no imbalance in PBL --- 13q12.3 to 13qter (in 20% of PBL) 29.58 Mb [hg19]	normal with ASD	{1363} case 26

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

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
13- 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
13- WU-N/ 1-1	female	2y	PBL	n.a. also UPD 7 see 07-WU-N/ 1-1	DD, MR, dyslalia, ataxia	{1080} p16

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
13- 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
13- 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
13- 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
13- WU-seg/ q12.11/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
13- WU-seg/ q12.11/ mos/ 1-1	n.a.	5y	PBL	n.a. --- 13q12.11 to 13qter 20.27 Mb [hg19] 35% mos	different abnomalies	{1363} case 27

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
13- WU-imb/ 1-1	male	6m	PBL	n.a. acc. to aCGH One copy number loss at 5p15.2	Bare lymphocyte syndrome, type II, complementation group D (gene RFXAP in 13q13.3)	{828} 1 case
13- WU-imb/ 2-1	n.a.	n.a.	PBL	n.a. copy number variant or 4 copies in 8pter (aCGH)	most likely dymorphic and MR size of UPD unclear no gene identified	{828; 1170} 1 case

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
13- WU-imb/ mos/ 2-1	-	-	-	-	-	-