9번 염색체 단완 결실 1례

• 영문명: A Case of Deletion of 9p
• 발행기관: 조선대학교 의학연구원
• 저자명: 김소희(So-Hee Kim) 박영봉(Young-Bong Park) 김은영(Eun-Young Kim) 박상기(Sang-Kee Park)
• 간행물 정보: 『The Medical Journal of Chosun University』제31권 제3호, 124~126쪽, 전체 3쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2006.10.31

영문 초록

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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9p deletion