Article
Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q.
Ophthalmic genetics - 1 Mar 2005
de Azevedo Moreira Lília Maria, Neri Fátima Bittencourt, de Quadros Uzeda Sheila, de Carvalho Acácia Fernandes Lacerda, Santana Gustavo Costa, Souza Fabiana Rocha, Rollemberg José Cortes
Abstract excerpt
PURPOSE: Ocular anomalies have been associated with numerous chromosomal abnormalities. This report describes partial trisomy 3q in a two-month-old girl with dysmorphic features of the Dup3q phenotype and severe eye and cerebellar malformations. METHODS: Clinical examination and chromosomal analysis were conducted. RESULTS: The karyotype of the propositus was 46,XX, ins(3)(pter --> p25::q27 --> q21::p25 -->...
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