Lo I F, Cheung L Y, Ng A Y, Lam S T
Clinical Genetic Service, Department of Health, Kowloon, Hong Kong.
Am J Med Genet. 1998 Jun 16;78(1):55-7.
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.
我们描述了一名男性患者，其1号染色体短臂存在间质重复，断点涉及1p13.1和1p22.1。该患者表现出一些歌舞伎综合征（KMS）的临床特征，包括智力迟钝、小头、下眼睑外侧外翻、内眦赘皮、眉毛外侧上挑、鼻小柱短以及持续存在的胎儿指垫。这一细胞遗传学发现可能为该综合征的基因定位提供线索。
