{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T11:07:39Z","timestamp":1773832059886,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,12,24]],"date-time":"2022-12-24T00:00:00Z","timestamp":1671840000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Split\u2010hand\/foot malformation (SHFM) with long\u2010bone deficiency (SHFLD) is a rare condition characterized by SHFM associated with long\u2010bone malformation usually involving the tibia. It includes three different types; SHFLD1 (MIM % 119,100), SHFLD2 (MIM % 610,685) and SHFLD3 (MIM # 612576). The latter was shown to be the most commonly reported with a duplication in the 17p13.1p13.3 locus that was narrowed down to the <jats:italic>BHLHA9<\/jats:italic> gene. Here, we report a consanguineous Lebanese family with three members presenting with limb abnormalities including tibial hemimelia. One of these patients presented with additional bowing fibula and another with bilateral split hand. CGH array analysis followed by RQ\u2010PCR allowed us to detect the first homozygous duplication on the short arm of chromosome 17p13.3 including the <jats:italic>BHLHA9<\/jats:italic> gene and involved in SHFLD3. Interestingly, one patient with the homozygous duplicated region, carrying thus four <jats:italic>BHLHA9<\/jats:italic> copies presented with long bone deficiency but no SHFM. The incomplete penetrance and the variable expressivity of the disease in this family as well as the presence of the <jats:italic>BHLHA9<\/jats:italic> homozygous duplication rendered genetic counseling extremely challenging and preimplantation genetic diagnosis almost impossible.<\/jats:p>","DOI":"10.1002\/ajmg.a.63094","type":"journal-article","created":{"date-parts":[[2022,12,24]],"date-time":"2022-12-24T08:19:40Z","timestamp":1671869980000},"page":"923-929","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp><i>BHLHA9<\/i><\/scp> homozygous duplication in a consanguineous family: A challenge for genetic counseling"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6257-6609","authenticated-orcid":false,"given":"Eliane","family":"Chouery","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Gilbert and Rose\u2010Marie Chagoury School of Medicine Lebanese American University  Byblos Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elio","family":"Tahan","sequence":"additional","affiliation":[{"name":"Gilbert and Rose\u2010Marie Chagoury School of Medicine Lebanese American University  Byblos Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rim","family":"Karam","sequence":"additional","affiliation":[{"name":"Gilbert and Rose\u2010Marie Chagoury School of Medicine Lebanese American University  Byblos Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jana","family":"Pharoun","sequence":"additional","affiliation":[{"name":"Gilbert and Rose\u2010Marie Chagoury School of Medicine Lebanese American University  Byblos Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7209-9359","authenticated-orcid":false,"given":"Cybel","family":"Mehawej","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, 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