TL

ChromosOmics - Database

- CHROMOSOME 8 -
- paternal UPD -

UPD MATERNAL CHR . 8	UPD unclear if maternal or 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

pat UPD-cases without clinical findings + normal karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
08- OpU-N/ 1-1	female	prenatal	AF, PBL	46,XX	NIPT sugested trisomy 8; none prenatlly and none at 3y	{1376}

mosaic cases

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

mosaic cases

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
08- 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
08- WpU-N/ 1-1	female	prenatal and newborn	PBL	46,XX	lipoprotein lipase deficiency (gene LPL in 8p21.3)	{64}
08- WpU-N/ 2-1	n.a.	7y	PBL	n.a.	Asperger syndrome; attention deficit disorder (iso-UPD 8 - unclear if associated wirth any gene on chromosome 8)	{619} case 9
08- WpU-N/ 3-1	male	postnatal	PBL	n.a.	Congenital adrenal hyperplasia (gene CYP11B1 in 8q24.3)	{789}
08- WpU-N/ 4-1	female	12y	PBL	n.a.	spinal muscular atrophy with progressive myoclonic epilepsy (gene ASAH1 in 8p22)	{803; 862}
08- WpU-N/ 5-1	male	6y	PBL	n.a.	Hereditary motor and sensory neuropathy-type Lom (HMSNL), CMT4D (gene NDRG1 in 8q24.22)	{976} case 10
08- WpU-N/ 6-1 to 6-2	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
08- WpU-N/ 7-1	male	~3y	PBL	n.a.	Brown-Vialetto-Van Laere syndrome (gene SLC52A2 in 8q24.3)	{1392}
08- WpU-N/ 8-1	female	6y	PBL	n.a.	retinitis pigmentosa (gene RP1 in 8q11.23-q12.1)	{1422}
08- WpU-N/ 9-1	female	8y	PBL	n.a.	TRAPPC9-related neurodevelopmental disorder (gene TRAPPC9 in 8q24.3)	{1460}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
08- 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
08- 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
08- 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
08- WpU-seg/ pter/ 1-1	female	newborn	PBL	n.a. --- 8pter to 8p13.3	lipoprotein lipase deficiency (gene LPL in 8p21.3)	{1003}
08- WpU-seg/ q24.3/ 1-1	male	newborn	PBL	n.a. --- small segment in 8q24.3	epidermolysis bullosa simplex associated with pyloric atresia (gene PLEC1 in 8q24.3)	{508} case 2

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
08- 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
08- WpU-imb/ 1-1	n.a.	n.a.	PBL	n.a. aCGH: del(15)(q13.3q14) de novo	autism, learning disability (no gene identified) - most likely due to del(15)	{652} case 19
08- WpU-imb/ 2-1	male	12y	PBL	n.a. aCGH: der(8) with del and dup in 8p23.1 UPD in 8p23.1 to 8pter	At birth ASD type II; at 12y DD, IQ = 50, obese	{1014}
08- WpU-imb/ 3-1	n.a.	newborn	PBL	46,XY,dup(8)(pter→p23.3: :p12→p23.3: :p23.3→qter) --- 8p23.3 to 8p12	motor and language delay, dysmorphic facial features, mild hypotonia	{491}

mosaic cases

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