{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T21:04:09Z","timestamp":1790975049334,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"16","license":[{"start":{"date-parts":[[2008,7,14]],"date-time":"2008-07-14T00:00:00Z","timestamp":1215993600000},"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":[[2008,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have characterized a de novo balanced translocation t(18;20)(q21.1;q11.2) in a female patient with mild to moderate mental retardation (MR) and minor facial anomalies. Breakpoint\u2010mapping by fluorescence in situ hybridization indicated that on chromosome 18, the basic helix\u2010loop\u2010helix transcription factor <jats:italic>TCF4<\/jats:italic> gene is disrupted by the breakpoint. TCF4 plays a role in cell fate determination and differentiation. Only recently, mutations in this gene have been shown to result in Pitt\u2013Hopkins syndrome (PHS), defined by severe MR, epilepsy, mild growth retardation, microcephaly, daily bouts of hyperventilation starting in infancy, and distinctive facial features with deep\u2010set eyes, broad nasal bridge, and wide mouth with widely spaced teeth. Breakpoint mapping on the derivative chromosome 20 indicated that here the rearrangement disrupted the chromodomain helicase DNA binding protein 6 (<jats:italic>CHD6<\/jats:italic>) gene. To date, there is no indication that <jats:italic>CHD6<\/jats:italic> is involved in disease. Our study indicates that <jats:italic>TCF4<\/jats:italic> gene mutations are not always associated with classical PHS but can give rise to a much milder clinical phenotype. Thus, the possibility exists that more patients with a less severe encephalopathy carry a mutation in this gene. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32419","type":"journal-article","created":{"date-parts":[[2008,7,15]],"date-time":"2008-07-15T00:46:23Z","timestamp":1216082783000},"page":"2053-2059","source":"Crossref","is-referenced-by-count":69,"title":["Disruption of the <i>TCF4<\/i> gene in a girl with mental retardation but without the classical Pitt\u2013Hopkins syndrome"],"prefix":"10.1002","volume":"146A","author":[{"given":"Vera M.","family":"Kalscheuer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilse","family":"Feenstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conny M.A.","family":"Van Ravenswaaij\u2010Arts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique 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