[Syndrome of congenital malformations and dysmorphic features in a newborn with partial trisomy 16q due to maternal translocation t(9;16)(p24;q13)]

Abstract

A newborn with multiple congenital malformations and a pattern of dysmorphic features (microcephaly, uneven skull surface, exophthalmos, periorbital oedema, clefting of primary and secondary palates, camptodactylia of hands and feet, patent arterial duct, thoracic and spinal malformations, ambiguous external genitals) is described. Partial trisomy of chromosome 16q due to maternal reciprocal translocation t(9;16)(p24;q13) was detected. The risk for the next pregnancy was estimated to be low (below 2.6%).