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
in Korean
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Chromosomes, Human, Pair 9
/
In Situ Hybridization
/
Corneal Opacity
/
Fluorescence
/
Polycystic Kidney Diseases
/
Intellectual Disability
Limits:
Female
/
Humans
/
Infant
Language:
Korean
Journal:
Korean Journal of Clinical Pathology
Year:
1997
Type:
Article
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