SMCs derived from the X

maternal uniparental disomy 18 (mat UPD 18)

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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 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
18-WmU-seg-pter/ 1-1	female	5m	PBL	46,XX,-21,+t(18;21)(q12.2;q11.2)mat	developmental delay; dysmorphic features	{406}
				18pter to 18q12.2
18-WmU-seg-pter/ 2-1	female	prenatal	PBL	46,XX,rec(18)dup(p)inv(18)(p11.31q21.33)mat,rec(18)dup(q)inv(18)(p11.31q21.33)pat	normal female	{613}case 2
				18pter to 18p11.31 mat hUPD 18q21.33 to 18qter pat hUPD

references of this sub-page

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