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Prenatal diagnosis of a terminal chromosome 1 (q42-q44) deletion: original case report and review of the literature

Terminal chromosome 1q deletion is rarely reported but causes typical malformations that have been well described in childhood. Clinical features include facial dysmorphy, growth and/or psychomotor retardation, brain agenesis or hypoplasia of the corpus callosum, epilepsy and occasional urogenital o...

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Bibliografiske detaljer
Udgivet i:Facts Views Vis Obgyn
Main Authors: Van Linthout, C, Emonard, V, Gatot, JS, Capelle, X, Kridelka, F, Emonts, P, Segghaye, MC
Format: Artigo
Sprog:Inglês
Udgivet: Universa Press 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5130298/
https://ncbi.nlm.nih.gov/pubmed/27909566
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