TL

ChromosOmics - Database

- CHROMOSOME 8 -
- unclear if maternal or paternal UPD -

UPD MATERNAL CHR . 8	UPD PATERNAL CHR . 8
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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
08- OU-N/ 1-1	female	prenatal	AF	46,XX	posatnatal: none; VSD in sonography prenatally	{1509} case 4

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
08- 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
08- 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
08- 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
08- OU-seg/ p21.3/ 1-1	male	prenatal	placental DNA	NIPT suggested a recue of 46,XY,del(8)(p21.3)	none after birth	{1375} case 2
08- OU-seg/ p11.21/ 1-1	n.a. see also 20-OU-seg/ p11.23/1-1	prenatal	placental DNA	NIPT suggested a recue of 46,XN,del(8)(p11.21),dup(20)(pter->p11.23) - also r(19)as mosaic	minimal after birth, most likely due to +19 mosaic	{1375} case 3

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
08- 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
08- OU-imb/ 1-1 to 1-2	n.a.	prenatal	PBL	46,XN,+8 acc. to NIPT	normal child born	{1389} cases 136 and 138

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
08- 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
08- WU-N/ 1-1	n.a.	2m	PBL	n.a.	failure to thrive (iso-UPD 8)	{619} case 10
08- WU-N/ 2-1	male	3y	PBL	n.a.	primary autosomal recessive microcephaly (gene MCPH1 in 8p23.2)	{828} 1 case
08- WU-N/ 3-1 to 3-2	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
08- WU-N/ 3-3 to 3-4	n.a.	postnatal	PBL	n.a.	autism spectrum disorder	{1450} 1 case
08- WU-N/ 4-1	n.a.	postnatal	PBL	n.a.	Mild ID, low birth weight, autism, aggressive (no gene identified - iUPD)	{1213} case N6
08- WU-N/ 5-1 to 7-1	n.a.	postnatal	PBL	46,XN	different neurodev. disorders	{1300} 3 cases
08- WU-N/ 8-1	n.a.	postnatal	PBL	46,XN	neurodev. disorder (gene GDF6 in 8q22.1 )	{1300} 1 case

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
08- 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
08- 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
08- WU-sSMC/ 1-1	08-U-16	female/ postnatal	PBL	47,XX,+mar[20]	mar(8)(:p11.21→p11.1:) array: 40.69.-43.29 MB	array-CGH segm. UPD 8q12.1 to 8q23.1	DD, short stature	{691}
08- WU-sSMC/ 2-1	08-U-17	female/ prenatal	AF	47,XX,+mar[20]	mar(8)(:p12→q12:) aCGH: 37.12-51.48 MB	aCGH	abnormal biochemistry, TOP; holoprosen- cephaly	{730} case 9

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
08- WU-seg/ q23.1/ 1-1	n.a.	postnatal	PBL	n.a. --- i(UPD) in 8q23.1 to 8q22.31 no gene identified	clinically abnormal	{947} case 85
08- WU-seg/ q24.21/ 1-1	n.a.	postnatal	PBL	n.a. --- i(UPD) in 8q24.21 to 8q24.22 no gene identified	clinically abnormal	{947} case 228

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
08- 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
08- WU-imb/ 1-1	n.a	n.a.	tissue	46,XN,der(8)(pter→p11.21: :p12→qter) in aCGH dup: 31.31-42.33 Mb UPD(8)seg: 8pter→8p11.21 in aCGH: 0-31.31 Mb	cystic hygroma	{858} case 129 {1363} case 46
08- WU-imb/ 2-1	n.a.	25y	PBL	aCGH x3: 8p21.2-8p12 iUPD: 8pter-8p21.1	multiple congenital abnormalities	{1363} case 47
08- WU-imb/ 3-1	n.a.	prenatal	AF	aCGH x3: 8q24.13-8q24.3 iUPD: 8q24.3-8qter	multiple abnormalities in sonography	{1363} case 48
08- WU-imb/ 4-1 to 4-2	n.a.	prenatal	PBL	46,XN,+8 acc. to NIPT	TOP	{1389} cases 117 and 137

mosaic cases

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