Pierre Robin sequence and interstitial deletion 2q32.3-q33.2

Pierre Robin sequence (PRS) consists of the nonrandom association of microg nathia, cleft palate (CP), and glossoptosis. It also includes respiratory a nd feeding difficulties that appear to be neurogenic rather than mechanical in causation. Genetic determinants are thought to underlie this functional and morphological entity, based on the existence of Mendelian syndromes wi th PRS, and the rare observations of familial nonsyndromic PRS, in which so me of the affected individuals have isolated CP. We report the association of PRS with deletion 2q32.3-q33.2 due to an unbalanced reciprocal transloca tion 46,XX, t(2;21), del 2(q32.3q33.2), and we refine the deletion interval with regard to YAC probes and polymorphic DNA markers. The deletion was sh own to be flanked by D2S369 (telomeric) and D2S315 (centromeric), thus it m aps to a recently determined chromosomal region known to be nonrandomly ass ociated with CP. This observation supports the hypothesis for the genetic b ases of nonsyndromic PRS, strengthens its possible genetic association with isolated CP, and provides a candidate PRS locus, in chromosomal region 2q3 2.3-q33.2. (C) 2001 Wiley-Liss, Inc.