SMCs derived from the X

paternal uniparental disomy 8 (pat UPD 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
UPD-cases without clinical findings + other imbalances	UPD-cases with or unclear clinical correlation + other imbalances
Segmental UPD-cases without clinical findings	Segmental UPD-cases with or unclear clinical correlation

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pat UPD cases with clinical findings or unclear correlation and normal karyotype:

case no.	gender	age at diagnosis	studied material	GTG-banding result grade of mosaicism	clinical symptoms	reference
08-WpU-N/ 1-1	female	prenatal and newborn	PBL	46,XX	lipoprotein lipase deficiency	{64}
08-WpU-N/ 2-1	n.a.	7y	PBL	n.a.	Asperger syndrome; attention deficit disorder (iso-UPD 8)	{619} case 9

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pat segmental UPD cases with or unclear clinical correlation:

case no.	gender	age at diagnosis	studied material	GTG-banding result; grade of mosaicism segmental UPD	clinical symptoms	reference
08-WpU-seg-p23.3/ 1-1	n.a.	newborn	PBL	46,XY,dup(8)(pter→p23.3::p12→p23.3::p23.3→qter)	motor and language delay, dysmorphic facial features, mild hypotonia	{491}
				8p23.3 to 8p12
08-WpU-seg-q24.3/ 1-1	male	newborn	PBL	n.a.	epidermolysis bullosa simplex associated with pyloric atresia due to Mutation in the plectin gene (PLEC1)	{508}case 2
				small segment in 8q24.3

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