Interstitial Dup(1p) with findings of Kabuki make-up syndrome.
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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Clinical Genetic Service, Department of Health, Kowloon, Hong Kong. skyblue@netvigator.com
Cheung
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Lam
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D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002878:Chromosomes, Human, Pair 1; D002968:Clavicle / Q000002:abnormalities; D019465:Craniofacial Abnormalities / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D005810:Multigene Family; D013577:Syndrome