De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence.
10.3345/kjp.2009.52.5.603
- Author:
Soon Min LEE
1
;
Min Soo PARK
;
Kook In PARK
;
Ran NAMGUNG
;
Chul LEE
;
Jin Seong LEE
;
Kyung A LEE
;
Jong Rak CHOI
Author Information
1. Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Duplication;
Pierre Robin sequence;
Trisomy 8p
- MeSH:
Chromosomes, Human, Pair 8;
Cleft Palate;
Karyotype;
Paint;
Pierre Robin Syndrome;
Trisomy
- From:Korean Journal of Pediatrics
2009;52(5):603-606
- CountryRepublic of Korea
- Language:English
-
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).
