TL

ChromosOmics - Database

- CHROMOSOME 8 -
- maternal UPD -

UPD unclear if maternal or paternal 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 UPD-cases without clinical findings + normal karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
08- OmU-N/ 1-1	male	adult	PBL	46,XY	detected during diabetes 2 gene hunt, history of early onset ileal cancer	{229}
08- OmU-N/ 1-2	male	prenatal	AF	46,XY	normal child born	{1528} case 10

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
08- 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
08- 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
08- 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
08- OmU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
08- 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
08- WmU-N/ 1-1	male	10y	PBL	46,XY	neuronal ceroid lipofuscinosis 8 (gene CLN8 in 8p23.3)	{493}
08- WmU-N/ 2-1	n.a.	6m	PBL	n.a.	Prominent forehead, plagiocephaly, hypertelorism, low set ears, short toe, inside ear prominent, pneumothorax (mixed h-i-UPD 8)	{619} case 23
08- WmU-N/ 3-1	male	8y	PBL	n.a.	Psychomotor retardation	{896} case 2
08- WmU-N/ 4-1	n.a.	prenatal	AF	n.a.	multicystic dysplastic kidneys, enlarged cisterna magna, and was suggestive of occipital encephalocele; Meckel-Gruber syndrome (gene TMEM67 in 8q22.1)	{1013}
08- WmU-N/ 5-1	n.a.	postnatal	PBL	n.a.	details n.a. found in a cohort of children with inborn heart disease heterodisomy here it is known that gene CHD7 in 8q12.2 is maternally methylated	{1066}
08- WmU-N/ 6-1	female	10y	PBL	n.a.	Motor delay, spastic diplegia at 2y; difficulty speaking, hypophonia, difficulty opening mouth (gene ERLIN2 in 8p11.23)	{1209} family 2
08- WmU-N/ 7-1	male	31y	PBL	n.a.	retinitis pigmentosa (gene RP1 in 8q11.23-q12.1)	{1433} case 2
08- WmU-N/ 8-1	male	1y	PBL	n.a.	Spastic paraplegia type 5A (gene CYP7B1 in 8q12.3)	{1540}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
08- 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
08- 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
08- WmU-sSMC/ 1-1	08- U-25	male/ 6y	PBL	47,XY,+mar[60%]/ 46,XY[40%]	min(8)(:p11.22→q11.21:) aCGH-data (hg19): 38,989,813–50,283,147	aCGH; UPD-test	see below	{960}
08- WmU-sSMC/ 1-1	pregnancy with polyhydramnios, and dilatation of the pelvicalyceal system. After birth normal growth pattern with gastroesophageal (GE) reflux for the first few months. At 2 years delayed speech, hypermetropia in the left eye. He talked at 3 years with dysarthria probably secondary to hypotonia. ADHD. At 5 years he could follow the orders of three words, and his fine motor and gross motor skills were at 4 years. Hyperphagia, and at 6 years, weight 28 kg (75th centile), height 123 cm (90th centile), and head circumference is 55 cm (<2 SD above the mean); mild mental retardation

segmental mat UPD-cases with or unclear clinical correlation

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
08- WmU-seg/ 1-1	n.a.	postnatal	PBL	n.a. --- exact localization or size not reported	Developmental and speech delay, ptosis	{1213} case V4

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
08- 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
08- WmU-imb/ 1-1	female	newborn	PBL	45,XX,-8,-8,+psu dic(8)(p23.3)	Ataxic gait, growth delay, psychomotor delay	{292}
08- WmU-imb/ 2-1	female	prenatal	AF	45,XX,-8,-8,+psu dic(8;8)(p23.1;p23.3)	TOP; autopsy revealed hypoplasia of teh cerbellar vermis and dilatation of tubules of the left kidney	{420}
08- WmU-imb/ 3-1	female	newborn	PBL	47,XY,+del(8)(q21.1)[8%]/46,XY[92%]	Nijmegen breakage syndrome (gene NBN in 8q21.3)	{364}
08- WmU-imb/ 4-1	n.a.	prenatal	PBL	46,XN,+8 acc. to NIPT	TOP	{1389} case 116

mosaic cases

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