Article
Partial trisomy 3q in a child with sacrococcygeal teratoma and Cornelia de Lange syndrome phenotype.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2011
Dundar M, Uzak A, Erdogan M, Saatci C, Akdeniz S, Luleci G, Keser I, Karauzum S
Abstract excerpt
Partial duplication of 3q is a rare chromosomal disorder that leads to multiple congenital abnormalities such as growth retardation, microcephaly and characteristic facial features. Although the phenotype of the patient has similarities with Cornelia de Lange Syndrome they are etiologically different. We report here a 9 months old baby boy with partial duplication of 3q and features similar with Cornelia De Lange...
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