TL

ChromosOmics - Database

- CHROMOSOME 22 -
- maternal UPD -

UPD unclear if maternal or paternal 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 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

mat UPD-cases without clinical findings + normal karyotype

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

mosaic cases

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

mat UPD-cases without clinical findings + balanced karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
22- OmU-bal/ 1-1	female	adult	PBL	45,XX,der(22;22)(q10;q10)mat	none apart from repeated abortions	{235}
22- OmU-bal/ 1-2	female	n.a.	PBL	45,XX,der(22;22)(q10;q10)mat	none apart from repeated abortions in mother	{284}
22- OmU-bal/ 1-3	female	postnatal	PBL	45,XX,der(22;22)(q10;q10)	none	{304} case 5
22- OmU-bal/ 1-4	male	25y	PBL	45,XX,der(22;22)(q10;q10)dn	none; repeated abortions in female partner	{318}
22- OmU-bal/ 1-5	male	postnatal	PBL	45,XY,der(22;22)(q10;q10)dn	none; repeated abortions in female partner	{796}

mat 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- OmU-sSMC/ 1-1	22-O- q11/ 2-1	female/ 1y	PBL	47,XX,+mar[11]/ 46,XX[39]	min(22)(:p11.1→q11:)	cenM	see below	{33}
22- OmU-sSMC/ 1-1	child born without any clinical signs; in placenta and umbilical cord material mosaic of 46,XX/47,XX+22/47,XX+mar

segmental mat UPD-cases without clinical findings

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

mosaic cases

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

mat UPD-cases without clinical findings + other imbalances

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
22- OmU-imb/ 1-1	female	pre- and postnatal	chorion, AF, PBL	47,XX,+22 in chorion 46,XX in AF and PBL	normal at birth	{544}

mosaic cases

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

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
22- WmU-N/ 1-1	n.a.	prenatal	AF	n.a.	malformations; no gene identified	{483}
22- WmU-N/ 2-1	male	11y	PBL	n.a.	recessive congenital methemoglobinemia (gene CYB5R3 in 22q13.2)	{688}
22- WmU-N/ 3-1	n.a.	postnatal	PBL	n.a.	infantile neuroaxonal dystrophy 1 (gene PLA2G6 in 22q13.1)	{692}
22- WmU-N/ 3-2	female	postnatal	PBL	n.a.	infantile neuroaxonal dystrophy 1 (gene PLA2G6 in 22q13.1)	{790}
22- WmU-N/ 3-3	male	4y	PBL	n.a.	n.a. (gene PLA2G6 in 22q13.1)	{841} case 97
22- WmU-N/ 4-1	female	2m	PBL	n.a.	megalencephalis leukocephalopathy (gene MLC1 in 22q13.31)	{951} case PT15
22- WmU-N/ 4-2	female	~1-2y	PBL	n.a.	megalencephalis leukocephalopathy (gene MLC1 in 22q13.31)	{1024} patient 1
22- WmU-N/ 5-1	n.a.	pernatal	fetus	n.a.	iso-UPD - but no gene identified	{967} 1 case
22- WmU-N/ 6-1	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
22- WmU-N/ 7-1	n.a.	postnatal	n.a.	n.a.	Mild ID, small height, low weight	{1213} case V8
22- WmU-N/ 8-1	n.a.	prenatal	AF	n.a.	n.a.	{1486} case 27
22- WmU-N/ 9-1	male	postnatal	PBL	n.a. hUPD	DD DYS	{1559} case 14

mosaic cases

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

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

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

mat UPD-cases with or unclear clinical findings + sSMC

case no.	case no. in sSMC database	gender/ age at Diagnose	studied material	GTG-banding result	final FISH result of the sSMC	FISH methods	clinical symptoms	reference
22- WmU-sSMC/ 1-1	22- Wces- -5-81	n.a./ n.a.	details not listed	47,+inv dup(22)			Cat-eye syndrome	{433} case 7; {434} case 36

segmental mat UPD-cases with or unclear clinical correlation

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
22- WmU-seg/ pter/ 1-1	female	8y	PBL	n.a. --- 22pter to 22q13.1	childhood schizophrenia and facial DYS (gene possibly COMT in 22q11.21)	{666} case 3

mosaic cases

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

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
22- WmU-imb/ 1-1	male	prenatal	placenta PBL	46,XY in PBL 47,XY,+22 in placenta	growth retardation, DYS	{78} {194} 1 case
22- WmU-imb/ 1-2	female	prenatal	placenta PBL skin fibros	46,XX in PBL mosaic in skin fibros 47,XX,+22 in placenta	growth retardation, DYS	{149}
22- WmU-imb/ 1-3	n.a.	prenatal	CH PBL skin fibros	46 in PBL mosaic in skin fibros 47,+22 in placenta	growth retardation	{306}case 95.64 {484}
22- WmU-imb/ 1-4	male	prenatal	PBL	47,XY,+22/46,XY in PBL	IUGR, slight MR	{485}
22- WmU-imb/ 1-5 to 1-6	n.a.	prenatal	AF	+22 acc. to NIPT	DYS	{1604} cases 25 and 26 in App. 2

mosaic cases

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