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Deletion of proximal 6q: A clinical report and review of the literature

✍ Scribed by Yamamoto, Yoshifumi ;Okamoto, Noriko ;Shiraishi, Hirohiko ;Yanagisawa, Masayoshi ;Kamoshita, Shigehiko ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1986
Tongue: English
Weight: 298 KB
Volume: 25
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320250308

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✦ Synopsis

We report on a 13-year-old boy who had an interstitial deletion of the long arm of chromosome 6[46,XY,del(6)(pter+q13::q15+qter)]. A characteristic facial appearance with facial asymmetry, vertebral anomalies, vdgus heels with flat feet, and congenital heart defect seem to form part of a specific del6q syndrome.

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