TL

ChromosOmics - Database

- CHROMOSOME 2 -
- paternal UPD -

UPD MATERNAL CHR . 2	UPD unclear if maternal or 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

pat UPD-cases without clinical findings + normal karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
02- OpU-N/ 1-1	male	adult	PBL	n.a.	none - detceted during a genome wide SNP scan	{232}
02- OpU-N/ 1-2	male	postnatal	PBL	n.a.	none - paternity test	{696}
02- OpU-N/ 1-3	female	postnatal	PBL	n.a.	none - paternity test	{961}
02- OpU-N/ 1-4	female	postnatal	PBL	n.a.	none - paternity test	{1091}
02- OpU-N/ 1-5	female	postnatal	PBL	n.a.	none	{1143}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
02- 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
02- OpU-bal/ 1-1	-	-	-	-	-	-

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- 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
02- OpU-seg/ pter/ 1-1	female	36y	PBL	46,XX,i(2)(p10),i(2)(q10) --- 2pter to 2p11	normal female, repeated abortions	{58} {348; 349} family 4
02- OpU-seg/ pter/ 1-2	male	34y	PBL	46,XY,i(2)(p10),i(2)(q10) --- 2pter to 2p11	normal male repeated abortions in female partner	{450}

mosaic cases

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
02- 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
02- WpU-N/ 1-1	male	14y	PBL	46,XY	pseudovaginal perineoscrotal hypospadias (gene SRD5A2 in 2p23.1)	{133 = 709}
02- WpU-N/ 2-1	male	9y	PBL	46,XY	Donnai-Barrow syndrome (gene LRP2 in 2q31.1)	{228}
02- WpU-N/ 3-1	male	newborn	PBL	n.a.	Crigler-Najjar type I syndrome (gene UGT1A1 in 2q37.1)	{291}
02- WpU-N/ 4-1	male	newborn	PBL	n.a.	see below	{345} case 2
02- WpU-N/ 4-1	severe intellectual disability, DYS (deep set eyes, right ptosis, hypoplastic alanase, very curly hair), atrial septal defect, ventricular septal defect, hypoplastic aortic arch and left ventricle, multiple arteriovenous malformation , mild coarctation, hypoplasia of cerebellar vermis. Short stature, microcephaly, gastric esophageal reflux, poor feeding and pulmonary hypertension.
02- WpU-N/ 5-1	female	adult	PBL	46,XX	retinitis pigmentosa 38 (gene MERTK in 2q13)	{69}
02- WpU-N/ 6-1	female	newborn	PBL	n.a.	juvenile or adult onsetcongenitalprimary open angle glaucoma 3A (gene CYP1B1 in 2p22.2)	{488}
02- WpU-N/ 6-2	male	15y	PBL	n.a.	juvenile or adult onsetcongenitalprimary open angle glaucoma 3A (gene CYP1B1 in 2p22.2)	{710}
02- WpU-N/ 6-3	female	8y	PBL	n.a.	juvenile or adult onsetcongenitalprimary open angle glaucoma 3A (gene CYP1B1 in 2p22.2)	{1438}
02- WpU-N/ 7-1	female	newborn	PBL	n.a.	long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (gene HADHA/ LCHAD in 2p23.2)	{572}
02- WpU-N/ 8-1	n.a.	1y 4 m	PBL	n.a.	abnormal phenotype no gene identified	{619} case 3
02- WpU-N/ 8-2	n.a.	postnatal	PBL	n.a.	abnormal phenotype no gene identified	{1393} case P3
02- WpU-N/ 8-3 to 8-4	n.a.	prenatal	AF	46,XN	abnormal phenotype / fetal death. no gene identified; some candidates mentioned	{1490}
02- WpU-N/ 8-5	n.a.	prenatal	AF	n.a.	no gene identified	{1604} cases 18 and 19 in App. 2
02- WpU-N/ 9-1	male	5y 6 m	PBL	n.a.	progressive familial intrahepatic cholestasis 2 (gene ABCB11 in 2q31.1)	{665; 712; 888; 932}
02- WpU-N/ 9-2	female	~1.5y	PBL	n.a.	progressive familial intrahepatic cholestasis 2 (gene ABCB11 in 2q31.1)	{1538}
02- WpU-N/ 10-1	male	10y	PBL	n.a.	Escobar syndrome (gene CHRNG in 2q37.1)	{841} case 432
02- WpU-N/ 11-1	male	postnatal	PBL	n.a.	Vitamin K-dependent coagulant factor deficiency (VKCFD) (gene GGCX in 2p11.2)	{975}
02- WpU-N/ 12-1 to 12-3	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
02- WpU-N/ 13-1	n.a.	prenatal	AF	n.a.	lethal multiple pterygium syndrome (gene CHRND in 2q37.1)	{1061}
02- WpU-N/ 14-1	female	postnatal	PBL	n.a.	achromatopsia (gene CNGA3 in 2q11.2)	{1064; 1329}
02- WpU-N/ 15-1	female	2y	PBL	n.a.	nemaline myopathy 2 (gene NEB in 2q23.2)	{1073} case 1
02- WpU-N/ 16-1	male	3y	PBL	n.a.	Jalili syndrome (gene CNNM4 in 2q11.2)	{1217} patient 3
02- WpU-N/ 17-1	male	4y	PBL	n.a.	Schimke immunoosseous dysplasia (gene SMARCAL1 in 2q35) unclear if segmental or whole chr.	{1220} patient 1
02- WpU-N/ 17-2	male	5y	PBL	n.a.	SRS and Schimke immunoosseous dysplasia (gene SMARCAL1 in 2q35)	{1364}
02- WpU-N/ 18-1	n.a.	pre and postnatal	AF and PBL	n.a.	postnatal hypotonia and MR	{1221} case 112
02- WpU-N/ 19-1	male	1.6y	PBL	n.a.	Warburg Micro Syndrome 1 (gene RAB3GAP1 in 2q21.3)	{1230} case 112
02- WpU-N/ 20-1	male	newborn	PBL	n.a.	Mitochondrial DNA depletion syndrome (gene DGUOK in 2p13.1)	{1251}
02- WpU-N/ 21-1	n.a.	postnatal	PBL	n.a.	Dystonia 16 (gene PRKRA in 2q31.3)	{1393} case P2
02- WpU-N/ 22-1	n.a.	postnatal	PBL	n.a.	long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) (gene HADHA in 2p23.3) and Crigler-Najjar syndrome type 1 (CNs1) (gene UGT1A1 in 2q37.1	{1434}
02- WpU-N/ 23-1	male	17y	PBL	n.a.	dysferlinopathy (gene DYSF in 2p13.2)	{1457}
02- WpU-N/ 24-1	male	3y	PBL	n.a.	congenital hypothyroidism (gene TPO in 2p25.3)	{1488}
02- WpU-N/ 25-1	n.a.	prenatal	AF	n.a.	n.a.	{1496} case 1
02- WpU-N/ 26-1	male	4y	PBL	n.a.	Stickler syndrome-like {gene LOXL3 in 2p13.1)	{1596}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
02- 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
02- 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
02- WpU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental pat UPD-cases with or unclear clinical correlation

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
02- 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
02- WpU-imb/ 1-1	female	newborn	CH; PBL	47,XX,+2 in CH 46,XX in PBL	harlequin ichthyosis (gene ABCA12 in 2q35)	{127}

mosaic cases

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