| De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence |
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Soon Min Lee, Min Soo Park, Kook In Park, Ran Namgung, Chul Lee, Jin Seong Lee, Kyung A Lee, Jong-Rak Choi |
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Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea |
| De novo interstitial direct duplication 8(p21.3p23.1)을 보인 Pierre Robin sequence 1예 |
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이순민, 박민수, 박국인, 남궁란, 이철, 이진성, 이경아, 최종락 |
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연세대학교 의과대학 소아과학교실 |
Correspondence:
Jong-Rak Choi, Email: cjr@yumc.yonsei.ac.kr
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| Abstract |
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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). |
| Key Words:
Duplication, Pierre Robin sequence, Trisomy 8p |
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