Article
Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.
European journal of medical genetics - 1 Jan 2000
Quélin Chloé, Bendavid Claude, Dubourg Christèle, de la Rochebrochard Céline, Lucas Josette, Henry Catherine, Jaillard Sylvie, Loget Philippe, Loeuillet Laurence, Lacombe Didier, Rival Jean-Marie, David Véronique, Odent Sylvie, Pasquier Laurent
Abstract excerpt
13q deletion is characterized by a wide phenotypic spectrum resulting from a partial deletion of the long arm of chromosome 13. The main clinical features are mental retardation, growth retardation, craniofacial dysmorphy and various congenital defects. Only one recent Italian study was aimed at determining genotype-phenotype correlations among 13q deletions from a group of mainly live born children, using...
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