Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Complete trisomy 14 mosaicism: first live-born case in Korea

  • Hur, Yun Jung (Department of Pediatrics, Inje University Haeundae Paik Hospital, Inje University College of Medicine) ;
  • Hwang, Taegyu (Department of Pediatrics, Inje University Haeundae Paik Hospital, Inje University College of Medicine)
  • Received : 2011.09.22
  • Accepted : 2012.05.09
  • Published : 2012.10.15
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Abstract

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.

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References

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