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Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH
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  • Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH
  • Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH
저자명
Lee. Cha Gon,Yun. Jun-No,Park. Sang-Jin,Sohn. Young Bae
간행물명
Journal of genetic medicine
권/호정보
2013년|10권 1호|pp.52-56 (5 pages)
발행정보
대한의학유전학회
파일정보
정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
서지반출

기타언어초록

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.