Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH
Journal of Genetic Medicine
;
: 52-56, 2013.
Article
in English
| WPRIM
| ID: wpr-83940
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Skin
/
Trisomy
/
Chromosomes, Human, Pair 14
/
Ophthalmoplegia
/
Chromosome Aberrations
/
Cytogenetics
/
Mitochondrial Diseases
/
Comparative Genomic Hybridization
/
DNA Copy Number Variations
Limits:
Humans
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2013
Type:
Article
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