TL

ChromosOmics - Database

- CHROMOSOME 22 -
- paternal UPD -

UPD MATERNAL CHR . 22	UPD unclear if maternal or paternal CHR . 22
UPD-cases without clinical findings + normal karyotype	UPD-cases with or unclear clinical correlation + normal karyotype
UPD-cases without clinical findings + balanced karotype	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

pat UPD-cases without clinical findings + normal karyotype

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

mosaic cases

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

pat UPD-cases without clinical findings + balanced karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
22- OpU-bal/ 1-1	male	postnatal	PBL	45,XY,der(22;22)(q10;q10)pat	normal male; detected due to repeated abortions in mother	{283}
22- OpU-bal/ 1-2	female	postnatal	PBL	45,XX,der(22;22)(q10;q10)pat	normal female; repeated abortions	{796}

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
22- OpU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental pat UPD-cases without clinical findings

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

mosaic cases

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

pat UPD-cases without clinical findings + other imbalances

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

mosaic cases

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

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
22- WpU-N/ 1-1	n.a.	n.a.	n.a.	n.a.	n.a.	{401}
22- WpU-N/ 2-1	male	postnatal	PBL	46,XY	metachromatic leukodystrophy (gene ARSA in 22q13.33)	{717}
22- WpU-N/ 3-1	female	newborn	PBL	46,XX	PLA2G6-associated neurodegeneration (gene PLA2G6 in 22q13.1)	{1049}
22- WpU-N/ 4-1	n.a.	children	PBL	n.a.	orofacial cleft no gene identified	{1105} 1 case
22- WpU-N/ 5-1	male	14y	PBL	n.a.	megaconial congenital muscular dystrophy (gene CHKB in 22q13.33)	{1071} patient 2

mosaic cases

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

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

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

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
22- WpU-sSMC/ 1-1	22-U-82	n.a./ prenatal	AF	47,XN,+mar[?100%]	mar(22)	aCGH	DD; DYS; TOP	{1033} case 1

segmental pat UPD-cases with or unclear clinical correlation

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

mosaic cases

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

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
22- WpU-imb/ 1-1	female	n.a.	PBL	46,XX,del(22)(q13.2)[73]/46,XX[27] --- 22q13.2 to 22qter in normal cell line	Phelan-McDermid syndrome	{162}

mosaic cases

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