|
KMID : 1189120130100010052
|
|
대한의학유전학회지
2013 Volume.10 No. 1 p.52 ~ p.56
|
|
|
Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH
|
|
Lee Cha-Gon
Yun Jun-No
Park Sang-Jin
Sohn Young-Bae
|
|
|
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.
|
|
|
KEYWORD
|
|
|
Array CGH, Mosaicism, Trisomy 14, Developmental delay, Intellectual disability
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|
|