{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T01:02:02Z","timestamp":1791162122706,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,7,13]],"date-time":"2005-07-13T00:00:00Z","timestamp":1121212800000},"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":[[2005,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a boy with blepharophimosis, ptosis, epicanthus inversus, microcephaly, mild mental retardation, and growth delay. Chromosomal analysis revealed a male karyotype with an interstitial deletion in the long arm of chromosome 3. DNA\u2010analysis showed that the deletion is of maternal origin and encompasses the region between markers D3S1535 and D3S1593. The deletion contains not only the<jats:italic>FOXL2<\/jats:italic>gene, but also the gene encoding ataxia\u2010telangiectasia and Rad3\u2010related protein (<jats:italic>ATR<\/jats:italic>). Mutations in<jats:italic>FOXL2<\/jats:italic>have been shown to cause blepharophimosis\u2010ptosis\u2010epicanthus inversus syndrome (BPES).<jats:italic>ATR<\/jats:italic>has been identified as a candidate gene for Seckel syndrome, an autosomal recessive syndrome that comprises growth retardation, microcephaly, and mental retardation. We hypothesize that our patient has a contiguous gene syndrome and that the non\u2010BPES\u2010associated abnormalities (microcephaly, mild mental retardation, and growth delay) are the result of the deletion of the maternal<jats:italic>ATR<\/jats:italic>gene. However, it has not yet been excluded that haploinsufficiency of some other gene in this region plays a role. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30786","type":"journal-article","created":{"date-parts":[[2005,7,13]],"date-time":"2005-07-13T18:46:31Z","timestamp":1121280391000},"page":"81-87","source":"Crossref","is-referenced-by-count":26,"title":["Interstitial deletion in 3q in a patient with blepharophimosis\u2010ptosis\u2010epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: Clinical report and review of the literature"],"prefix":"10.1002","volume":"137A","author":[{"given":"M.H.","family":"de 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