{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T06:00:37Z","timestamp":1774418437024,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,11,25]],"date-time":"2013-11-25T00:00:00Z","timestamp":1385337600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Congenital clubfoot is a heterogeneous disorder that can result in functional disability, deformity, and pain if left untreated. Although the etiology is considered multifactorial in the majority of cases, a 17q23.1\u2013q23.2 duplication has been reported in families with congenital clubfoot characterized by variable expressivity and incomplete penetrance. The candidate gene within the duplicated region is <jats:italic>TBX4<\/jats:italic>, a T\u2010box transcription factor required for normal hind limb development. We describe a familial 2.15\u2009Mb duplication in the 17q23.1\u2013q23.2 region identified in a mother, daughter, and two sons. The male proband was referred for genetic evaluation due to multiple congenital anomalies including bilateral clubfoot, dysplastic hips, multiple heart defects, microcephaly, midfacial hypoplasia, brain anomalies on MRI scan, seizure disorder, optic nerve hypoplasia, hearing loss, and bilateral vocal cord paralysis. Cytogenetic testing on family members identified the 17q23.1\u2013q23.2 duplication in both older siblings and the mother. In this family both male siblings had clubfoot, while females were phenotypically normal. Although <jats:italic>TBX4<\/jats:italic> remains the candidate gene for congenital clubfoot involving 17q23.1\u2013q23.2 duplications, the explanation for variable expressivity and penetrance remains unknown. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36238","type":"journal-article","created":{"date-parts":[[2013,11,25]],"date-time":"2013-11-25T20:36:27Z","timestamp":1385411787000},"page":"364-369","source":"Crossref","is-referenced-by-count":27,"title":["Familial microduplication of 17q23.1\u2013q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females"],"prefix":"10.1002","volume":"164","author":[{"given":"Jess F.","family":"Peterson","sequence":"first","affiliation":[{"name":"Pittsburgh Cytogenetics Laboratory Center for Medical Genetics and Genomics, Magee\u2010Womens Hospital of UPMC Pittsburgh Pennsylvania"},{"name":"Department of Human Genetics Graduate School of Public Health, University of Pittsburgh Pittsburgh Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"Ghaloul\u2010Gonzalez","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suneeta","family":"Madan\u2010Khetarpal","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Hartman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Urvashi","family":"Surti","sequence":"additional","affiliation":[{"name":"Pittsburgh Cytogenetics Laboratory Center for Medical Genetics and Genomics, Magee\u2010Womens 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of Pittsburgh School of Medicine Pittsburgh Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Svetlana A.","family":"Yatsenko","sequence":"additional","affiliation":[{"name":"Pittsburgh Cytogenetics Laboratory Center for Medical Genetics and Genomics, Magee\u2010Womens Hospital of UPMC Pittsburgh Pennsylvania"},{"name":"Department of Obstetrics, Gynecology and Reproductive Sciences University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"},{"name":"Department of Pathology University of Pittsburgh School of Medicine Pittsburgh 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