Uniparental disomy resulting from heterozygous Robertsonian translocation (13ql4q) in both parents

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 (13ql4q)]. their affected son had a similar karyotype. their daughter's karyotype revealed the presence of a homozygous robertsonian 13/14 translocation 44, xx t (13ql4), t(13ql4q). according to the clinical findings it is possible to conclude that the affected boy suffers from upd.