J Genet Med.  2013 Jun;10(1):52-56. 10.5734/JGM.2013.10.1.52.

Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH

  • 1Department of Pediatrics, Eulji General Hospital, Seoul, Korea.
  • 2Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea. ybsohn@ajou.ac.kr
  • 3MG MED, Inc., Seoul, Korea.


Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method for detecting DNA copy number changes, in place of traditional karyotype analysis. However, the array CGH shows a limitation for detecting the low-level mosaicism. Here, we report the detailed clinical and cytogenetic findings of patient with low-frequency mosaic trisomy 14, initially considered normal based on usual cut-off levels of array CGH, but confirmed by G-banding karyotyping. Our patient had global developmental delay, short stature, congenital heart disease, craniofacial dysmorphic features, and dark skin patches over her whole body. Estimated mosaicism proportion was 23.3% by G-banding karyotyping and 18.0% by array CGH.


Array CGH; Mosaicism; Trisomy 14; Developmental delay; Intellectual disability
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