Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation

Abstract

Robin sequence (RS) is a developmental anomaly characterised by micrognathia, cleft palate, and glossoptosis. To date, no known genes have been demonstrated to cause isolated RS. N We report a family with isolated RS in which this condition co-segregates with a balanced reciprocal t(2;17)(q24.1;24.3) translocation over three generations. N The breakpoints were localised using fluorescence in situ hybridisation walking to a region between probes RP11-157M22 and RP11-611G1 on chromosome 2, and RP11-147L13 and RP11-261A13 on chromosome 17. N We propose that this reciprocal translocation has disrupted a putative gene or a regulatory element at one or both translocation breakpoints. N This family represents a unique resource for the molecular genetic study of craniofacial development and has the potential to enable the identification of the developmental progression leading to RS.