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.
Artigo
em Inglês
| WPRIM
| ID: wpr-114913
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Anus Imperfurado
/
Diagnóstico Pré-Natal
/
Anormalidades Congênitas
/
Cromossomos Humanos Par 22
/
Marcadores Genéticos
/
Coloboma
/
Iris
/
Feto
/
Reação em Cadeia da Polimerase Multiplex
/
Coração
Tipo de estudo:
Estudo diagnóstico
Limite:
Animais
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2017
Tipo de documento:
Artigo
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