Interstitial dup (1p) with findings of Kabuki make‐up syndrome
IFM Lo, LYK Cheung, AYY Ng… - American journal of …, 1998 - Wiley Online Library
IFM Lo, LYK Cheung, AYY Ng, STS Lam
American journal of medical genetics, 1998•Wiley Online LibraryWe 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. Am. J. Med. Genet. 78: 55–57, 1998.© 1998 Wiley‐Liss, Inc.
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. Am. J. Med. Genet. 78: 55–57, 1998.© 1998 Wiley‐Liss, Inc.
Abstract
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. Am. J. Med. Genet. 78:55–57, 1998. © 1998 Wiley‐Liss, Inc.
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