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

Soon Min Lee, Min Soo Park, Kook In Park, Ran Namgung, Chul Lee, Jin Seong Lee, Kyung A Lee, Jong-Rak Choi

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

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...

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