A Case of 18p- Syndrome.
- Author:
Jin Tae KIM
1
;
Byoung Soo CHO
;
Chang Hyo LEE
;
Chang Il AHN
;
Kap Soon JU
Author Information
- Publication Type:Case Report
- Keywords: Craniofacial anomaly; Mental retardation; Chromosome study; 46; XX; 18p-
- MeSH: Arm; Chromosomes, Human, Pair 18; Cleft Palate; Constriction, Pathologic; Ear Canal; Female; Humans; Hypertelorism; Infant; Intellectual Disability; Korea; Microcephaly
- From:Journal of the Korean Pediatric Society 1981;24(6):589-591
- CountryRepublic of Korea
- Language:Korean
- 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.
