TL

ChromosOmics - Database

- CHROMOSOME 2 -
- unclear if maternal or paternal UPD -

UPD MATERNAL CHR . 2	UPD PATERNAL CHR . 2
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 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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
02- 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
02- 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
02- 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
02- OU-seg/ q11/ 1-1	female	adult 65 y	PBL	46,XX --- 2q11 to 2qter	normal female with 6 grandchildren	{506} case 6

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
02- OU-seg/ pter/ mos/ 1-1	n.a.	adult	PBL	n.a. acc. to array no imbalance in PBL --- 2pter-2p25.2 (28% of the cells)	normal adult	{545} case 776
02- OU-seg/ q34/ mos/ 1-1	n.a.	adult	PBL	n.a. acc. to array no imbalance in PBL --- 2q34 to 2qter (51% of the cells)	normal adult	{545} case 196
02- OU-seg/ q35/ mos/ 1-1	n.a.	adult	PBL	n.a. acc. to array no imbalance in PBL --- 2q35 to 2qter (22% of the cells)	normal adult with bladder cancer	{545} case 954

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
02- OU-imb/ 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
02- WU-N/ 1-1	n.a.	n.a.	PBL	n.a.	IUGR, postnatal short stature, macrocephaly, normal development, non-dysmorphic	{652} case 13
02- WU-N/ 2-1	n.a.	n.a.	PBL	n.a.	mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (gene DGUOK in 2p13.1)	{656; 690} 1 case
02- WU-N/ 3-1	n.a.	postnatal	PBL	46,XN	neurodev. disorder (gene SMARCAL1 in 2q35)	{1300} 1 case
02- WU-N/ 4-1	female	newborn	PBL	n.a.	GAPO-syndrome (gene ANTXR1 in 2p13.3)	{1161}
02- WU-N/ 5-1	male	4y	PBL	n.a.	neurodevelopmental disorder (iso-UPD 2 in 2p12p11.2 & 2q11.1q14.3 & 2p24.1p14 - no gene identifed)	{1162} case 147
02- WU-N/ 5-2 to 5-8	n.a.	postnatal	PBL	46,XN	different neurodev. disorders	{1300} 7 cases
02- WU-N/ 5-9	n.a.	postnatal	PBL	n.a.	autism spectrum disorder	{1450} 1 case
02- WU-N/ 6-1	n.a.	postnatal	PBL	n.a.	Limb girdle myopathy (no gene identified - iUPD)	{1213} case N3
02- WU-N/ 7-1	male	16y	PBL	n.a.	deficiency of a vitamin K-dependent protein (gene PROC in 2q14.3)	{1253}
02- WU-N/ 8-1	n.a.	postnatal	PBL	46,XN	neurodev. disorder (gene UNC80 in 2q34)	{1300} 1 case
02- WU-N/ 9-1 to 9-4	male 3x female 1x	prenatal	AF	46,XX or XY	DYS, TOP	{1542} cases 1, 7, 11, 22
02- WU-N/ 10-1	n.a.	prenatal	AF	n.a.	oligohydramnion	{1583} 1 case
02- WU-N/ 11-1	n.a.	prenatal	blastocyst	n.a. also UPD12	n.a.	{1599} case NA14043

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
02- 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
02- 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
02- 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
02-WU- seg/ 1-1	n.a.	postnatal	PBL	n.a. --- exact localization not reported - only size of 35 and 61 Mb	IUGR, postnatal short stature, macrocephaly, normal development, non-dysmorphic	{652} case 14
02-WU- seg/ 2p25.1/ 1-1	n.a.	prenatal	AF	2p25.1-2p22.3 --- exact localization not reported - only size of 24.36 Mb - iUPD	fetal death	{1267} 1 case

mosaic cases

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

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
02- WU-imb/ 1-1	n.a.	prenatal	fibroblasts	n.a.; acc. to aCGH 1.6 Mb duplication in Xp22.31	abortion	{1042} case C-036
02- WU-imb/ 2-1	n.a.	prenatal	CH	aCGH x3: 2p24.2-2p23.3 iUPD: 2pter-2p24.2	cystic hygroma	{1363} case 41
02- WU-imb/ 3-1 to 3-2	n.a.	prenatal	PBL	46,XN,+2 acc. to NIPT	TOP or neonatal death	{1389} cases 101 and 132
02- WU-imb/ 3-3	n.a.	prenatal	AF	46,XN,+2	n.a.	{1404} 1 case

mosaic cases

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