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Complete trisomy 14 mosaicism: first live-born case in Korea.

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.
AuthorsYun Jung Hur, Taegyu Hwang
JournalKorean journal of pediatrics (Korean J Pediatr) Vol. 55 Issue 10 Pg. 393-6 (Oct 2012) ISSN: 2092-7258 [Electronic] Korea (South)
PMID23133487 (Publication Type: Journal Article)

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