A case of partial trisomy 22 resulting from maternal 11/22 translocation

A malformed female infant with psychomotor and growth retardation was found to have partial trisomy 22 due to maternal translocation. The karyotype was designated as 47,XX,+der(22), t(11;22) (q25;q13)mat. Comparison was made with 14 other reported cases of partial trisomy 22.