Journal of the Korean Pediatric Society 1995;38(8):1146-1150.
Published online August 15, 1995.
Partial Monosomy 21 Associated with Unbalanced t(10p;21q)
Bon Su Koo, Sang Uk Park, Jae Hong Park, Su Yung Kim
Department of Pediatrics, Pusan National University, College of Medicine, Pusan, Korea
10번과 21번 염색체 불균형 전위를 동반한 21번 부분 단체성 1례
구본수, 박상욱, 박재홍, 김수영
부산대학교 의과대학 소아과학교실
Abstract
We experienced a case of partial monosomy 21 ina 9 year and 8 month old boy. He showed mental and growth retardation, others normal appearance except for low set malformed ears. Chromosomal analysis on Giemsa banding with high resolution showed unbalnaced translocation between 10 and 21 chromosomes and the deletion of short arm and centromere of chromosome 21. His karyotype was thus designated 45, XY, -10, -21, +der(10)t(10;21)(p15;q11). A brief review of literature was also presented.
Key Words: Partial monosomy 21, Unbalanced translocation


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