Trisomy D2 in a 21/2 years old girl (47,XX,14+).

A 21/2 years old girl with multiple malformations is reported. The cytogenetic and autoradiographic investigations show a trisomy D2(14). In the following symptoms the clinical signs are different from the syndrome of a trisomy D1(13): There are no malformations of the eyes, no inborn deafness, no malformations of the heart and kidneys, no hypoplasia of the thumb. The child does not show any signs of capillary haemangioma and no aplasia of the root of the bony nose. The malformation of the bony pelvis, like a splitted pelvis with very narrow high iliococcygeals is remarkable. The child shows all the mainsymptoms of the other autosomal trisomies: oligophrenia, craniofacial dysmorphia, hypotonia of the muscle tonus and dysplasia of the ears. © 1970 Springer-Verlag