A Case of 9p-Syndrome due to a Balanced Maternal Translocation t(9;16) (p22;p13.2).
- Author:
Kyeong Hee KIM
;
Sang Dong SIN
;
Jin Yeong HAN
;
Jung Man KIM
;
Lisa G SHAFFER
- Publication Type:Case Report
- MeSH:
Chromosomes, Human, Pair 9;
Corneal Opacity;
Female;
Fluorescence;
Humans;
In Situ Hybridization;
Infant;
Intellectual Disability;
Polycystic Kidney Diseases
- From:Korean Journal of Clinical Pathology
1997;17(4):676-680
- CountryRepublic of Korea
- Language:Korean
-
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.
