Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH
Journal of Genetic Medicine
;
: 52-56, 2013.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Piel
/
Trisomía
/
Cromosomas Humanos Par 14
/
Oftalmoplejía
/
Aberraciones Cromosómicas
/
Citogenética
/
Enfermedades Mitocondriales
/
Hibridación Genómica Comparativa
/
Variaciones en el Número de Copia de ADN
Límite:
Humanos
Idioma:
Inglés
Revista:
Journal of Genetic Medicine
Año:
2013
Tipo del documento:
Artículo
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