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

Other Titles
 De novo interstitial direct duplication 8(p21.3p23.1)을 보인 Pierre Robin sequence 1예 
 Soon Min Lee  ;  Min Soo Park  ;  Kook In Park  ;  Ran Namgung  ;  Chul Lee  ;  Jin Seong Lee  ;  Kyung A Lee  ;  Jong-Rak Choi 
 Korean Journal of Pediatrics, Vol.52(5) : 603-606, 2009 
Journal Title
 Korean Journal of Pediatrics 
Issue Date
Duplication ; Pierre Robin sequence ; Trisomy 8p
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).
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Namgung, Ran(남궁란) ORCID logo https://orcid.org/0000-0001-7182-9535
Park, Kook In(박국인) ORCID logo https://orcid.org/0000-0001-8499-9293
Park, Min Soo(박민수) ORCID logo https://orcid.org/0000-0002-4395-9938
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Lee, Soon Min(이순민) ORCID logo https://orcid.org/0000-0003-0174-1065
Lee, Jin Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
Lee, Chul(이철)
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
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