All issues > Volume 42(6); 1999

Case Report

J Korean Pediatr Soc. 1999;42(6):863-867. Published online June 15, 1999.

A Case of Partial Monosomy lOq Syndrome

Young Kyoun YK Kim¹, Yong Won YW Park¹, Chong Guk CG Lee¹, Sang Woo SW Kim¹

¹Department of Pediatrics, Inje University Seoul Paik Hospital, Seoul, Korea

Correspondence Young Kyoun YK Kim ,Email: 1

Abstract

It has been estimated that chromosomal aberrations account for 2.3% to 3% of normal pregnancies and of them 85% are aborted. Therefore, the survival rate of neonates with chromosomal aberrations are very low. Patients with partial deletion of the long arm of chromosome 10 are rare. We experienced a case of partial monosomy 10 in a 14-years-old girl. She showed mental and growth retardation, low-set malformed ears, hyperterolism, hypothyroidism and dilated cardiomyopathy. Chromosomal analysis on G-banding with high resolution showed a terminal deletion of the long arm of chromosome 10. Her karyotype was designated as 46, XX, del (l0) (q26). A brief review of literature is also presented.

Keywords :Partial monosomy 10, Terminal deletion, Chromosome abnormality