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

=Abstract= The Pierre Robin sequence (PRS) is the nonrandom association of micrognathia, cleft palate, and glossoptosis, leading to respi- ratory 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 demon- strate 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). (Korean J Pediatr 2009;52:603-606)