{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:09Z","timestamp":1761717969431},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5634,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Here we report on two additional cases of distal 6q deletions with one case showing a terminal deletion of chromosome 6 (46,XY, del(6)(pter \u2192 q26:)) and one case showing an interstitial deletion of chromosome 6 (46,XY, del(6)(pter \u2192 q23::q25 \u2192 qter)). The association of retinal abnormalities in 6q deletions is supported, and the additional manifestations of skin hyperextensibility, sacral abnormality, and imperforate anus are described.<\/jats:p>","DOI":"10.1002\/ajmg.1320350115","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:34:51Z","timestamp":1118547291000},"page":"79-84","source":"Crossref","is-referenced-by-count":54,"title":["Chromosome 6q deletions: A report of two additional cases and a review of the literature"],"prefix":"10.1002","volume":"35","author":[{"given":"D. R.","family":"McLeod","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. 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