Материнская однородительская дисомия хромосомы 2

Maternal uniparental disomy of chromosome 2 (UPD 2) is a very rare chromosomal anomaly in which both copies of chromosome 2 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 UPD2 is most often ascertained by a mosaic trisomy 2 pregnancy.