All issues > Volume 38(8); 1995

Case Report

J Korean Pediatr Soc. 1995;38(8):1146-1150. Published online August 15, 1995.

Partial Monosomy 21 Associated with Unbalanced t(10p;21q)

Bon Su BS Koo¹, Sang Uk SU Park¹, Jae Hong JH Park¹, Su Yung SY Kim¹

¹Department of Pediatrics, Pusan National University, College of Medicine, Pusan, Korea

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.

Keywords :Partial monosomy 21, Unbalanced translocation