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http://dx.doi.org/10.5734/JGM.2013.10.1.52

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

Lee, Cha Gon (Department of Pediatrics, Eulji General Hospital)
Yun, Jun-No (Department of Medical Genetics, Ajou University School of Medicine)
Park, Sang-Jin (MG MED, Inc.)
Sohn, Young Bae (Department of Medical Genetics, Ajou University School of Medicine)
Publication Information
Journal of Genetic Medicine / v.10, no.1, 2013 , pp. 52-56 More about this Journal
Abstract
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.
Keywords
Array CGH; Mosaicism; Trisomy 14; Developmental delay; Intellectual disability;
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