About this Biochemistry, Genetics and Molecular Biology article
Interstitial dup(1p) with findings of Kabuki make-up syndrome by Lo, Ivan F.M.; Cheung, Lauvena Y.K.; Ng, Anita Y.Y.; Lam, Stephen T.S. is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
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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- Author
- Lo, Ivan F.M.; Cheung, Lauvena Y.K.; Ng, Anita Y.Y.; Lam, Stephen T.S.
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)
- Published
- 1998
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)