maternal uniparental disomy of chromosome 20
Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.
MONDO:0700025
chromosome 20 disorder
is_a
MONDO:0700086
uniparental disomy
is_a
MBCS
related
UPD(20)mat
exact
maternal UPD(20)
exact
maternal uniparental disomy of chromosome type 20
exact