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Interstitial dup(1p) with findings of Kabuki make-up syndrome

✍ Scribed by Lo, Ivan F.M.; Cheung, Lauvena Y.K.; Ng, Anita Y.Y.; Lam, Stephen T.S.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 14 KB
Volume: 78
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980616)78:1<55::aid-ajmg11>3.0.co;2-n

No coin nor oath required. For personal study only.

✦ Synopsis

We describe a male patient with interstitial duplication of the short arm of chromosome 1 with breakpoints involving 1p13.1 and 1p22.1. The patient presented with some clinical findings of Kabuki make-up syndrome (KMS), including mental retardation, small head, eversion of the lateral part of lower eyelids, epicanthic folds, lateral flare of the eyebrows, short columella, and persistent fetal finger pads. This cytogenetic finding may provide clues for gene mapping of the syndrome.

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