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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\u2010sided obstructive heart defects, we screened for del 21q22.3 a series of syndromic and non\u2010syndromic children with HLHS, aortic coarctation and valvular aortic stenosis, consecutively admitted to our hospital in a three\u2010year 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. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36914","type":"journal-article","created":{"date-parts":[[2015,2,7]],"date-time":"2015-02-07T10:19:14Z","timestamp":1423304354000},"page":"579-586","source":"Crossref","is-referenced-by-count":10,"title":["Hypoplastic left heart syndrome and 21q22.3 deletion"],"prefix":"10.1002","volume":"167","author":[{"given":"Laura","family":"Ciocca","sequence":"first","affiliation":[{"name":"Cytogenetics and Molecular Genetics Medical Genetics and Pediatric Cardiology Bambino Ges\u00f9 Paediatric Hospital IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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