Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification
Journal of Genetic Medicine
; : 43-47, 2017.
Article
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| WPRIM
| ID: wpr-114913
Biblioteca responsable:
WPRO
ABSTRACT
Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.
Palabras clave
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Ano Imperforado
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Diagnóstico Prenatal
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Anomalías Congénitas
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Cromosomas Humanos Par 22
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Marcadores Genéticos
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Coloboma
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Iris
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Feto
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Reacción en Cadena de la Polimerasa Multiplex
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Corazón
Tipo de estudio:
Diagnostic_studies
Límite:
Animals
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Female
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Humans
Idioma:
En
Revista:
Journal of Genetic Medicine
Año:
2017
Tipo del documento:
Article