儿子患歌舞伎综合征，母亲为低比例嵌合型45,X/46,XX。
Kabuki syndrome in son and low grade mosaic 45,X/46,XX in mother.
作者信息
Van Hagen J M, Kwee M L, Madan K, Nieuwint A W, Pals G, ten Kate L P
机构信息
Department of Clinical Genetics, Academic Hospital, Amsterdam, The Netherlands.
出版信息
Genet Couns. 1996;7(3):201-6.
PMID:8897041
Abstract
We report on a two-year-old boy with Kabuk syndrome and a normal male karyotype whose mother is a low grade mosaic 45,X/46,XX. We hypothesized that the son's Kabuki syndrome might have been caused by gonosomal uniparental (paternal) disomy DNA analysis proved this hypothesis to be incorrect. A review of twelve patients with Kabuki syndrome or Kabuki-syndrome-like features and chromosome abnormalities is presented.
摘要
我们报告了一名患有歌舞伎综合征且核型为正常男性的两岁男孩，其母亲是低比例的45,X/46,XX嵌合体。我们推测该男孩的歌舞伎综合征可能是由性染色体单亲（父系）二体性引起的，但DNA分析证明这一推测是错误的。本文还综述了12例患有歌舞伎综合征或具有歌舞伎综合征样特征及染色体异常的患者。
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