Partial trisomy 13q22----qter. A new case

A newborn male patient with a partial trisomy 13q22----qter, derived from a maternal translocation (13;15)(q22;p11) is reported. This non-frequent chromosomal anomaly leads to a characteristic phenotype easily recognizable from other craniosynostosis syndromes, in which the cranial malformation is often associated with auricular and limb defects. This phenotype includes: cranial malformation, characteristic facies, mental and developmental retardation, urologic and genital anomalies, polydactily, abnormal muscular tonicity and convulsive status. Our patient, a "pure" partial trisomy, without other associated chromosomal anomaly, is compared with the published cases.