TL

ChromosOmics - Database

- CHROMOSOME 21 -
- unclear if maternal or paternal UPD -

UPD MATERNAL CHR . 21	UPD PATERNAL CHR . 21
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	tudied material	GTG-banding result	clinical symptoms	reference
21- OU-N/ 1-1	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
21- 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
21- 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
21- 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
21- OU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
21- 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
21- OU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
21- OU-seg/ q22.11/ mos/ 1-1	n.a.	adult	PBL	n.a.; acc. to array no imbalance in PBL --- 21q22.11 to 21qter (in 20% of PBL)	normal adult with bladder cancer	{545} case 138

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
21- WU-N/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
21- 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
21- 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
21- 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
21- WU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
21- WU-seg/ q21.1/ mos/ 1-1	n.a.	29y	PBL	in aCGH, dup(12)(p13.33p11.2) and del(21)(q22.2q22.3) --- 21q21.1 to 21qter 23.75 Mb [hg19] 40% mos	DD	{1363} case 35

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
21- WU-imb/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
21- WU-imb/ mos/ 1-1	n.a.	prenatal	fibroblasts	aCGH x3.4: 21q11.2-21q21.1 aCGH x1 (30%): 21q21.1-21qter iUPD: 21q21.1-21qter (70%)	AMA; TOP	{1363} case 52