TL

ChromosOmics - Database

- CHROMOSOME 22 -
- unclear if maternal or paternal UPD -

UPD MATERNAL CHR . 22	UPD 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 karyotype	UPD-cases with or unclear clinical correlation + balanced karotype
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
22- OU-N/ 1-1	-	-	-	-	-	-

mosaic cases

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

mosaic cases

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
22- 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
22- WU-N/ 1-1	n.a.	prenatal	fetus	n.a.	iso-UPD - but no gene identified	{967} 1 case
22- WU-N/ 2-1	n.a.	postnatal	PBL	n.a.	Endometrial, thyroid, sigmoid, breast, and kidney cancer; iso-UPD - but no gene identified	{1213} case N14
22- WU-N/ 3-1 to 9-1	n.a.	postnatal	PBL	46,XN	different neurodev. disorders	{1300} 7 cases
22- WU-N/ 10-1	n.a.	postnatal	PBL	46,XN	neurodev. disorder (gene CYB5R3 in 22q13.2)	{1300} 1 case
22- WU-N/ 11-1	n.a.	postnatal	PBL	46,XN	neurodev. disorder (gene NCAPH2 in 22q13.33)	{1300} 1 case
22- WU-N/ 12-1	n.a.	postnatal	PBL	46,XN	neurodev. disorder (gene ARSA in 22q13.33)	{1300} 1 case

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
22- 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
22- WU-bal/ 1-1	male	prenatal	AF	45,XY,t(22;22)(q10;q10)	Tricuspid regurgitation child born	{1578} case 36

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
22- WU-sSMC/ 1-1	22- Uu-2	male/ prenatal	AF	47,XY,+mar[100%}	inv dup(22)(q12.1) arr(hg19): break im 27,421,632	aCGH	in NIPT +22, TOP	{1226} case 11

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
22- WU-seg/ q13.1/ 1-1	n.a.	n.a.	PBL	46,XN --- 22q11.31 to 22qter	mitochondrial DNA depletion syndrome 1 (gene TYMP in 22q13.33)	{656; 690} 1 case
22- WU-seg/ q12.1/ 1-1	male	5y	PBL	n.a. --- 22q12.1 to 22q13.1	neurodevelopmental disorder (iso-UPD 22 - no gene identifed)	{1162} case 209

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
22- WU-seg/ q11.21/ mos/ 1-1	n.a.	4y	PBL	46,XN --- 22q11.21 to 22qter (in 20% of PBL)	macrocephaly, DD, soft tissue leasion in neck, frontal hair whorl	{652} case 12
22- WU-seg/ q11.23/ mos/ 1-1	n.a.	newborn	PBL	n.a. --- 22q11.23 to 22qter 21.1 Mb [hg19] 50% mos	abnormal NIPT with fetal death	{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
22- WU-imb/ 1-1	n.a	1y	PBL	46,XN,der(22)(pter→q13.31: :q13.2→qter) in aCGH dup: 42.56-47.74 Mb UPD(22)seg: 22q13.31→22qter in aCGH: 47.74-51.14 Mb	microcephaly	{858} case 133 {1363} case 53
22- WU-imb/ 2-1	n.a	prenatal	chorion; PBL	mos 47,+22/46	IUGR; otherwise normal	{1113} case 10
22- WU-imb/ 3-1	n.a.	n.a.	PBL	n.a. --- 22q12.2 to 22q?ter also dup(22)(q12.1q12.2)	most likely DYS and MR	{828; 1170} 1 case
22- WU-imb/ 4-1	male	2y	PBL	n.a. --- 22q13.1 to 22q13.33	neurodevelopmental disorder (iso-UPD 22 - no gene identifed) but also 4 copies of 22q12.3 to 22q13.1 and mosaic gain of UPD region	{1162} case 443

mosaic cases

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