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  • 标题:De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence
  • 本地全文:下载
  • 作者:Lee, Soon Min ; Park, Min Soo ; Park, Kook In
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2009
  • 卷号:52
  • 期号:5
  • 页码:603-606
  • DOI:10.3345/kjp.2009.52.5.603
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    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).

  • 关键词:Duplication; Pierre Robin sequence; Trisomy 8p
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