SMCs derived from the X

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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mat UPD cases without clinical findings and normal karyotype:

case no.	gender	age at diagnosis	studied material	GTG-banding result grade of mosaicism	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}

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mat 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-WmU-N/ 1-1	male	10y	PBL	46,XY	Late-infantile-onset neuronal clroid Lipofuscinosis (LINCL)	{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

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mat UPD cases with clinical findings or unclear correlation and other imbalances:

case no.	gender	age at diagnosis	studied material	GTG-banding result grade of mosaicism	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	{364}

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