A Case of 9p-Syndrome due to a Balanced Maternal Translocation t(9;16) (p22;p13.2) / 대한임상병리학회지
Korean Journal of Clinical Pathology
;
: 676-680, 1997.
Article
Dans Coréen
| WPRIM
| ID: wpr-13980
ABSTRACT
The deletion 9p syndrome is a well characterized syndrome with about one hundred cases having been reported. Most patients have dysmorphic facial features, cardiac anomalies, and mental retardation. We report on a female infant with micrognathia, corneal opacity, cleft palace, cardiac anomaly, left polycystic kidney, and deletion 9p. Chromosome analysis and fluorescence in situ hybridization (FISH) showed her to have a derived chromosome 9 inherited from a maternal t(9;16) (p22;p13.2) by adjacent I segregation There are few reports of this particular chromosome rearrangement. We review deletion Sp syndrome.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Chromosomes humains de la paire 9
/
Hybridation in situ
/
Opacité cornéenne
/
Fluorescence
/
Polykystoses rénales
/
Déficience intellectuelle
Limites du sujet:
Femelle
/
Humains
/
Bébé
langue:
Coréen
Texte intégral:
Korean Journal of Clinical Pathology
Année:
1997
Type:
Article
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