All issues > Volume 52(5); 2009

Case Report

Korean J Pediatr. 2009;52(5):603-606. Published online May 15, 2009.

De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence

Soon Min SM Lee¹, Min Soo MS Park¹, Kook In KI Park¹, Ran R Namgung¹, Chul C Lee¹, Jin Seong JS Lee¹, Kyung A KA Lee¹, Jong-Rak JR Choi¹

¹Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea

Correspondence Jong-Rak JR Choi ,Email: cjr@yumc.yonsei.ac.kr

Abstract

The Pierre Robin sequence (PRS) is the nonrandom association of micrognathia, cleft palate, and glossoptosis, leading to respiratory and feeding difficulties that appear neurogenic rather than mechanical in causation. Genetic determinants are thought to underlie this functional and morphological entity, based on the existence of Mendelian syndromes with PRS. Here, we demonstrate the association of PRS with trisomy 8p due to duplication of a segment as the karyotype 46,XX,dup(8)(p21.3p23.1) and confirm the additional materials as chromosome 8 via whole chromosome paint probes. Our observation supports the hypothesis regarding a genetic basis for nonsyndromic PRS, strengthens the possible genetic association with isolated cleft palate, and provides a candidate PRS locus in chromosomal region 8(p21.3p23.1).

Keywords :Duplication, Pierre Robin sequence, Trisomy 8p