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  • 标题:Complete trisomy 14 mosaicism: first live-born case in Korea
  • 本地全文:下载
  • 作者:Hur, Yun Jung ; Hwang, Taegyu
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2012
  • 卷号:55
  • 期号:10
  • 页码:393-396
  • DOI:10.3345/kjp.2012.55.10.393
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism, and failure to thrive with the 47,XX,+14/46,XX chromosome complement.

  • 关键词:Chromosome 14 trisomy; Chromosome disorders
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