All issues > Volume 44(4); 2001

Case Report

J Korean Pediatr Soc. 2001;44(4):475-479. Published online April 15, 2001.

A Case of de novo Interstitial Deletion of 17 Chromosome

Kyung Hee KH Yoon¹, Hee Cheol HC Lee¹, Ai Rhan AR Kim¹, Ki Soo KS Kim¹, Soo Young SY Pi¹, Eul Ju EJ Seo², Han Wook HW Yoo²

¹Department of Pediatrics, Ulsan University College of Medicine, Asan Medical Center, Seoul, Korea
²Department of Medical Genetics, Ulsan University College of Medicine, Asan Medical Center, Seoul, Korea

Correspondence Ai Rhan AR Kim ,Email: arkim@www.amc.seoul.kr

Abstract

This is the first reported case of a unique interstitial deletion involving the long arm of chromosome 17 in a Korean male infant born to parents with normal karyotype. The patient presented with multiple congenital malformations suggestive of chromosomal anomaly including round face, upslanted palpebral fissure, hypertelorism, posteriorly rotated low set ear, micrognathia, microcephaly, finger- like thumb, bilateral hearing loss, cryptorchidism, and severe developmental delay found upon outpatient follow-ups. A table of comparison is shown in between our case with previously reported 3 cases by Park, et al.(1992), Dallapiccola, et al.(1993), and Khalifa, et al.(1993).

Keywords :De novo interstitial deletion, Chromosome 17