Complete trisomy 14 mosaicism: first live-born case in Korea.
10.3345/kjp.2012.55.10.393
- Author:
Yun Jung HUR
1
;
Taegyu HWANG
Author Information
1. Department of Pediatrics, Inje University Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea. H00105@paik.ac.kr
- Publication Type:Case Report
- Keywords:
Chromosome 14 trisomy;
Chromosome disorders
- MeSH:
Abortion, Spontaneous;
Chromosome Disorders;
Chromosomes, Human, Pair 14;
Complement System Proteins;
Failure to Thrive;
Female;
Humans;
Infant;
Korea;
Mosaicism;
Pregnancy;
Skin Pigmentation;
Trisomy
- From:Korean Journal of Pediatrics
2012;55(10):393-396
- CountryRepublic of Korea
- Language:English
-
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.
