TL

ChromosOmics - Database

- CHROMOSOME 10 -
- maternal UPD -

UPD unclear if maternal or paternal CHR . 10	UPD PATERNAL CHR . 10
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 UPD-cases without clinical findings + normal karyotype

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
10- 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
10- OmU-bal/ 1-1	-	-	-	-	-	-

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
10- OmU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental mat UPD-cases without clinical findings

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
10- OmU-seg/ q26.13/ 1-1	n.a.	newborn	CH, PBL	CH: 46,XN,der(10)(q29) PBL: 46,XN --- 10q26.13 to 10qter; 124.42 Mb [hg19]	clincally normal	{1363} case 9

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
10- 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
10- OmU-imb/ 1-1	male	prenatal	chorion placenta	47,XY,+10/46,XY	normal male child	{225}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
10- 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
10- WmU-N/ 1-1	male	newborn	PBL	46,XY	familial hemophagocytic lymphohistiocytosis 2 (gene PRF1 in 10q22.1)	{76}
10- WmU-N/ 2-1	male	newborn	PBL	n.a.	mitochondrial DNA depletion syndrome 7 (gene C10orf2 in 10q24.31)	{770}
10- WmU-N/ 3-1	female	newborn	PBL	n.a.	different malformations; 6 candiadte genes identified - most likely involved gene HPS1 in 10q24.2	{950}
10- WmU-N/ 4-1	female	~1y	PBL	n.a. besides UPD(10)mat also UPD(9)pat	Leigh syndrome (gene SURF1 in 10q34.2)	{1159} case 2
10- WmU-N/ 5-1	n.a.	newborn	PBL	n.a.	familial hemophagocytic lymphohistiocytosis (gene PFR1 in 10q22.1)	{1202} 1 case
10- WmU-N/ 6-1	n.a.	postnatal	PBL	n.a.	Severe ID, psychomotor delay, epilepsy, pontocerebellar hypoplasia (no gene identified - iUPD)	{1213} case V5
10- WmU-N/ 7-1	n.a.	postnatal	PBL	n.a.	Mitochondrial DNA depletion syndrome 7 (gene PITRM1 in 10p15.2)	{1368} patient 1

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
10- 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
10- WmU-bal/ 1-1	-	-	-	-	-	-

mat 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
10- WmU-sSMC/ 1-1	10- U-2	female/ prenatal	CH/AF/ fibroblasts	47,XX,+mar[15]/ 46,XX[2] AF: 17:3; Fibroblasts: 4:6	min(10)(:p12.31→q11.1:)	midi	see below	{16}
10- WmU-sSMC/ 1-1	AMA; twin of patient was death at 13 weeks of gestation; no abnormalitieTOPs in patient in ultrasound; in week 18; no abnormalities in autopsy

segmental mat UPD-cases with or unclear clinical correlation

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
10- 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
10- WmU-imb/ 1-1	male	newborn	PBL, skin; other tissue	46,XX in PBL; 47,XX+10 in skin and other tissues between 19/30 and 30/30 cells	severe DYS features, died at 37 days of age	{199}

mosaic cases

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