All issues > Volume 35(6); 1992

Case Report

J Korean Pediatr Soc. 1992;35(6):845-850. Published online June 15, 1992.

A case of Trisomy 8 mosaicism

Hong-Ro HR Lee¹, Byung-Geun BG Lee¹, Soo-Chul SC Cho¹, Dae Yeol DY Lee¹, Jung Soo JS Kim¹, So Ja SJ Jin²

¹Department of Pediatrics, Chonbuk National University Medical School, Chonju, Korea
²Department of Obstrtric and Gynecology, Chonbuk National University Medical School, Chonju, Korea

Abstract

This paper presents clinical manifestations and result of cytogenetic examination of a patient with trisomy 8 mosaicism syndrome. Characteristic features include hypertelolism, deep set eyes, anteverted nose, narrow pelves, hypospadia, camptodactyly and deep skin crease and furrows. Karyotyping and chromosomal analysis revealed 47 XY, + 8 mosaicism. A brief review of literature was presented.

Keywords :Trisomy 8 mosaicism