doi: 10.3345/kjp.2012.55.10.393.
Epub 2012 Oct 29.
Complete trisomy 14 mosaicism: first live-born case in Korea
Affiliations
- PMID: 23133487
- PMCID: PMC3488616
- DOI: 10.3345/kjp.2012.55.10.393
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Complete trisomy 14 mosaicism: first live-born case in Korea
Korean J Pediatr.
2012 Oct.
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.
Figures
Skin hyperpigmentation of reticular and marble patterns on a leg.
Chromosome study of the patient showing trisomy for chromosome 14(47,XX,+14) from peripheral blood lymphocyte cultures.
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