A case of mosaic trisomy 14 due to an isochromosome, i(14q)

Abstract

A malformed male infant showed a mosaic trisomy 14 with a karyotype of mos 46,XY/46,XY,-14,+i(14q). The mosaicism was found both in peripheral blood cultures and in lymphoblastoid cells transformed by EB virus infection. His clinical picture was compared with those of 5 previously reported cases of trisomy 14 mosaicism, and the following common phenotypic features were noted: growth retardation, psychomotor delay, narrow or asymmetrical palpebral fissures, broad nose, low-set and dysplastic ears, high-arched palate, micrognathia, short neck, congenital heart disease, and undescended testes. © 1984 Business Center for Academic Societies.