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

Authors
Lee, CG; Yun, JN; Park, SJ; Sohn, YB
Citation
Journal of genetic medicine, 10(1):52-56, 2013
Journal Title
Journal of genetic medicine; 대한의학유전학회지
ISSN
1226-17692233-9108
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 CGHMosaicismTrisomy 14Developmental delayIntellectual disability
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
AJOU Authors
손, 영배
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