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CASE REPORT
Korean J Pediatr 2012 October;55(10) :393-396.
Published online 2012 October 15.        doi:https://doi.org/10.3345/kjp.2012.55.10.393
Complete trisomy 14 mosaicism: first live-born case in Korea
Yun Jung Hur (Hur YJ), Taegyu Hwang (Hwang TG)
Department of Pediatrics, Inje University Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea
Corresponding Author: Taegyu Hwang ,Tel: +82-51-797-2006, Fax: +82-51-797-0032, Email: H00105@paik.ac.kr
Copyright © 2012 by The Korean Pediatric Society
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.
Keywords: Chromosome 14 trisomy | Chromosome disorders
 
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