title: Hypoplastic left heart syndrome and 21q22.3 deletion.
abstract: 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 probes. Although rare, del 21q22.3 has been described in two additional patients with HLHS. In order to investigate the frequency and role of this chromosomal imbalance in the pathogenesis of left-sided obstructive heart defects, we screened for del 21q22.3 a series of syndromic and non-syndromic children with HLHS, aortic coarctation and valvular aortic stenosis, consecutively admitted to our hospital in a three-year period. Although none of the 56 analyzed patients were hemizygous for this region, the present case report and published patients argue that del 21q22 should be added to the list of chromosomal imbalances associated with HLHS. Accordingly, the presence of a cardiac locus mapping in the critical region cannot be excluded.
authors: Cytogenetics and Molecular Genetics, Medical Genetics and Pediatric Cardiology, Bambino Gesù Paediatric Hospital, IRCCS, Rome, Italy.
authors: Laura
authors: L
authors: Ciocca
authors: M Cristina
authors: MC
authors: Digilio
authors: Antonietta
authors: A
authors: Lombardo
authors: Gemma
authors: G
authors: D'Elia
authors: Anwar
authors: A
authors: Baban
authors: Rossella
authors: R
authors: Capolino
authors: Stefano
authors: S
authors: Petrocchi
authors: Serena
authors: S
authors: Russo
authors: Pietro
authors: P
authors: Sirleto
authors: M Cristina
authors: MC
authors: Roberti
authors: Bruno
authors: B
authors: Marino
authors: Adriano
authors: A
authors: Angioni
authors: Bruno
authors: B
authors: Dallapiccola
mesh_terms: D002871:Chromosome Banding; D056905:Chromosome Breakpoints; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D005260:Female; D056726:Genetic Association Studies; D018740:Genetic Heterogeneity; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000175:diagnosis* / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D022521:Ligase Chain Reaction; D010641:Phenotype
keywords: chromosome 21; congenital heart defect; deletion; hypoplastic left heart