Article
Hypoplastic left heart syndrome and 21q22.3 deletion.
American journal of medical genetics. Part A - 1 Mar 2015
Ciocca Laura, Digilio M Cristina, Lombardo Antonietta, D'Elia Gemma, Baban Anwar, Capolino Rossella, Petrocchi Stefano, Russo Serena, Sirleto Pietro, Roberti M Cristina, Marino Bruno, Angioni Adriano, Dallapiccola Bruno
Abstract excerpt
Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect (CHD), associated with extracardiac anomalies in the 15-28% of cases, in the setting of chromosomal anomalies, mendelian disorders, and organ defects. We report on a syndromic female newborn with HLHS and terminal 21q22.3 deletion (del 21q22.3), investigated by Fluorescence In Situ Hybridization (FISH) using a panel of 26 contiguous BAC...
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