TL

ChromosOmics - Database

- CHROMOSOME 12 -
- unclear if maternal or paternal UPD -

UPD MATERNAL CHR . 12	UPD PATERNAL CHR . 12
UPD-cases without clinical findings + normal karyotype	UPD-cases with or unclear clinical correlation + normal karyotpe
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
12- OU-N/ 1-1	n.a.	adult	PBL	n.a.	most likely normal, maybe schizophrenia	{912} 1 case
12- OU-N/ 2-1	n.a.	adult	PBL	n.a.	Parental sample of patient with muscle ES	{1213} case N8

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
12- 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
12- 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
12- 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
12- OU-seg/ q13.3/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
12- OU-seg/ q13.3/ mos/ 1-1	n.a.	adult	PBL	n.a.; acc. to array no imbalance in PBL --- 12q13.3 to 12qter (in 17% of PBL)	normal adult with bladder cancer	{545} case 125

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
12- OU-imb/ 1-1	n.a.	prenatal	PBL	46,XN,+12 acc. to NIPT	normal child born	{1389} case 141

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
12- 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
12- WU-N/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
12- 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
12- 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
12- 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
12- WU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
12- WU-seg/ q13.11/ 2 seg/ mos/ 1-1	n.a.	1.5y	PBL	n.a. --- 12q13.11 to 12q13.13 12q13.13 to 12qter size overall 84.36 Mb [hg19] 70 and 85% mos	clinically abnormal, incl. DD	{1363} case 25
12- WU-seg/ q13.13/ mos/ 1-1	n.a.	newborn	PBL	n.a. --- 12q13.13 to 12qter 52.98 Mb [hg19] 25% mos	Mowat-Wilson syndrome (gene ZEB2 in 2q22.3!)	{1363} case 24

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
12- WU-imb/ 1-1	n.a.	prenatal	fibroblasts	n.a. but in aCGH del(22)(q11.23a12.1) and dup((X)(p22.31p22.31) --- 12q23.3 to q12.1 (only iUPD of this region studied)	abortion	{1042} case C-034

mosaic cases

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