Partial duplication of 3Q and distal deletion of 10Q inherited from a maternal balanced translocation

Partial trisomy 3q syndrome is often the result of an unbalanced translocation or inversion. The duplicated segments are mostly from 3q25 to 3qter. We describe a karyotype of 46,XY,der(10)t(3;10)(q25.3;q26.1) in a 1-day-old male infant who presented with multiple congenital anomalies including synophrys, a long philtrum, thin lips with down-turned angles of the mouth, micrognathia, a high-arched and cleft palate, clenched hands, genital hypoplasia, cryptorchidism, a large ventricular septal defect, a subependymal cyst, and corpus callosum hypoplasia. The patient had cardiopulmonary distress resulting from multiple congenital anomalies. He died of heart failure at the age of 18 days. The chromosome aberration resulted from a maternal balanced translocation. The dup(3q) syndrome superficially resembles but can be distinguished from Brachmann-de Lange syndrome. Craniofacial features, cleft palate and urinary tract anomaly are more frequent in dup(3q) syndrome. Oligodactyly and phocomelia are more characteristic of Brachmann-de Lange syndrome.