{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:56:34Z","timestamp":1761101794541},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,1,17]],"date-time":"2007-01-17T00:00:00Z","timestamp":1168992000000},"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":[[2007,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 42\u2010year\u2010old female patient with an interstitial 16 Mb deletion in 7q21.1\u201021.3 and a balanced reciprocal translocation between chromosomes 6 and 7 [karyotype 46,XX,t(6;7)(q23.3;q32.3)del(7)(q21.1q21.3)de novo]. We characterized the size and position of the deletion by tiling path array comparative genomic hybridization (CGH), and we mapped the translocation breakpoints on chromosomes 6 and 7 by FISH. The clinical features of this patient\u2014severe mental retardation, short stature, microcephaly and deafness\u2014are in accordance with previously reported patients with 7q21 deletions. Chromosome band 7q21.3 harbors a locus for split hand\/split foot malformation (SHFM1), and part of this locus, including the SHFM1 candidate genes <jats:italic>SHFM1<\/jats:italic>, <jats:italic>DLX5<\/jats:italic>, and <jats:italic>DLX6<\/jats:italic>, is deleted. The absence of limb abnormalities in this patient suggests either a location of the SHFM1 causing factor distal to this deletion, or reduced penetrance of haploinsufficiency of a SHFM1 factor within the deleted interval. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31601","type":"journal-article","created":{"date-parts":[[2007,1,17]],"date-time":"2007-01-17T20:17:52Z","timestamp":1169065072000},"page":"333-337","source":"Crossref","is-referenced-by-count":15,"title":["Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array 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