Uniparental disomy resulting from heterozygous Robertsonian translocation [13q14q] in both parents

ABSTRACT

Uniparental disomy [UPD] is a situation in which both members of a chromosome pair are inherited from one parent. This study has been conducted on a family with a five year-old healthy girl and a mentally retarded boy. The parents were first cousins and they both had Robertsonian translocation between their long arm of chromosome 13 and 14 [45, XY t [13q14q]]. Their affected son had a similar karyotype. Their daughter's karyotype revealed the presence of a homozygous Robertsonian 13/14 translocation 44, XX t [13q14], t [13q14q]. According to the clinical findings it is possible to conclude that the affected boy suffers from UPD