A Case of 18p- Syndrome
Journal of the Korean Pediatric Society
;
: 589-591, 1981.
Article
in Korean
| WPRIM
| ID: wpr-163210
ABSTRACT
We have experienced a case of 18p- syndrome in 22 month old girl who had craniofacial anomaly such as microcephaly, hypertelorism, nystagmus, depressed nasal bridge, complete bilateral cleft palate, both ear canal stenosis and mental retardation. Chromosome culture revealed short arm deletion of chromosome 18 in E group. As far as we know, this case is the first report of 18p- syndrome in Korea and brief review of related literature was made.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Arm
/
Chromosomes, Human, Pair 18
/
Cleft Palate
/
Constriction, Pathologic
/
Ear Canal
/
Hypertelorism
/
Korea
/
Intellectual Disability
/
Microcephaly
Limits:
Female
/
Humans
/
Infant
Country/Region as subject:
Asia
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
1981
Type:
Article
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