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
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Imperforation anale
/
Diagnostic prénatal
/
Malformations
/
Chromosomes humains de la paire 22
/
Marqueurs génétiques
/
Colobome
/
Iris
/
Foetus
/
Réaction de polymérisation en chaine multiplex
/
Coeur
Type d'étude:
Etude diagnostique
Limites du sujet:
Animaux
/
Femelle
/
Humains
langue:
Anglais
Texte intégral:
Journal of Genetic Medicine
Année:
2017
Type:
Article
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