학술저널
9번 염색체 단완 결실 1례
A Case of Deletion of 9p
- 조선대학교 의학연구원
- The Medical Journal of Chosun University
- 제31권 제3호
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2006.10124 - 126 (3 pages)
- 2
Deletion of distal short arm of chromosome 9(9p) is a well recognized entity with about 100 reported cases. Characteristic findings include trigonocephaly, upslanting palpebral fissures, epicanthal folds, anteverted nares, long philtrum, posteriorly angulated and poorly formed ears, excess of whorls on the fingers, and mental retardation. Chromosome analysis showed a 46，XY，del(9)(p22) karyotype in peripheral lymphocytes. Abdominal sonogram showed bilateral undescended testises. So we report the case and the brief review of related literatures.
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