All issues > Volume 51(11); 2008

Case Report

Korean J Pediatr. 2008;51(11):1241-1244. Published online November 15, 2008.

The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings

Young Ok YO Kim¹, Young Kuk YK Cho¹, En Song ES Song¹, Dong Kyun DK Han¹, Ic Sun IS Choi¹, Hee Jo HJ Baek¹, Chan Jong CJ Kim¹, Young Jong YJ Woo¹, Young Youn YY Choi¹

¹Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea

Correspondence Young Ok YO Kim ,Email: ik052@unitel.co.kr

Abstract

We report on 2 siblings with a partial trisomy of 7q (7q22→qter) and concomitant partial monosomy of 8p (8p23.3→pter), which were shown by FISH using probes located at the telomere region of each chromosome. All the balanced translocation carriers (father and a sister) in this family had a normal phenotype. The 2 siblings with the same abnormal karyotype had similar multiple congenital anomalies and dysmorphic features. During the follow-up, the first male patient died in the neonatal period, but the female sibling is still alive at 2 years and 6 months of age.

Keywords :Partial trisomy 7q, Partial monosomy 8p