A Case with Emanuel Syndrome Resulting from a Maternal Balanced Translocation
Journal of Genetic Medicine
;
: 35-37, 2012.
Artículo
en Inglés
| WPRIM
| ID: wpr-66742
ABSTRACT
Emanuel syndrome is a rare genomic syndrome which is characterized by multiple congenital anomalies and developmental disability. This syndrome is related to the presence of the supernumerary derivative chromosome originating from both chromosome 11 and 22. In most cases, one of the parents is a balanced carrier of a translocation. Our case results from 31 meiotic segregation of the maternal translocation carrier and is a rare case in Korea confirmed by genetic analysis.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Padres
/
Anomalías Congénitas
/
Cromosomas Humanos Par 11
/
Discapacidades del Desarrollo
/
Fisura del Paladar
/
Trastornos de los Cromosomas
/
Cardiopatías Congénitas
/
Corea (Geográfico)
/
Discapacidad Intelectual
/
Hipotonía Muscular
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Journal of Genetic Medicine
Año:
2012
Tipo del documento:
Artículo
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