Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH
Journal of Genetic Medicine
;
: 52-56, 2013.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Pele
/
Trissomia
/
Cromossomos Humanos Par 14
/
Oftalmoplegia
/
Aberrações Cromossômicas
/
Citogenética
/
Doenças Mitocondriais
/
Hibridização Genômica Comparativa
/
Variações do Número de Cópias de DNA
Limite:
Humanos
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2013
Tipo de documento:
Artigo
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