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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

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✦ 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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