Korean J Pediatr.  2012 Oct;55(10):393-396. 10.3345/kjp.2012.55.10.393.

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

• Hur YJ
• Hwang T

• KMID: 2140716
• DOI: http://doi.org/10.3345/kjp.2012.55.10.393

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.

Keyword

Chromosome 14 trisomy; Chromosome disorders

MeSH Terms

Abortion, Spontaneous
Chromosome Disorders
Chromosomes, Human, Pair 14
Complement System Proteins
Failure to Thrive
Female
Humans
Infant
Korea
Mosaicism
Pregnancy
Skin Pigmentation
Trisomy
Chromosomes, Human, Pair 14
Complement System Proteins
Mosaicism
Trisomy