Clinical and cytogenetic analysis of a family of 5p deletion syndrome and prenatal diagnosis of an insertion carrier

Objective To investigate the clinical features of 5p deletion syndrome and the origin of the 5p deletion,evaluate prenatal diagnosis of carriers of balance chromosomal abnormality.Methods The chromosomal karyotypes were analyzed in the family members and prenatal diagnosis were performed on the proband's mother three times.Results The karyotype of proband was 46,XY,del(5)(p13p15).The mother was a chromosomal aberration carrier and the prenatal diagnosis performed on the mother could reliably identify the patient and the insertion carrier.Conclusions The patients suffer from 5p deletion syndrome which is derived from a maternal insertion.Prenatal diagnosis performed in the balanced chromosomal structural aberration carriers can effectively avoid the birth of affected child.