Karyotype-phenotype correlation in partial trisomy 13. Report of a case due to maternal translocation

E. Bonioli, M. Crisalli, R. Monteverde and M. G. Vianello

A partial trisomy 13q, originating from a maternal translocation, 46,XX,t(3;13) (p26;q22), occurred in a 3-month-old infant, affected by multiple congenital anomalies. A review of the previously reported cases of partial trisomy for the distal segment of the long arm of chromosome 13 is conclusive for the existence of a distinct clinical entity; however, it is difficult to assign particular malformations to specific chromosome bands.