Jamshidi, N.Macciocca, I.Dargaville, P.Thomas, P.Kilpatrick, N.McKinlay Gardner, R.Farlie, P.2007-07-052007-07-052004Journal of Medical Genetics, 2004; 41(1):e1-e50022-25931468-6244http://hdl.handle.net/2440/34832© 2004 BMJ Publishing Group LimitedRobin 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.enBAC, bacterial artificial chromosomeFISH, fluorescent in situ hybridisationRS, Robin sequenceJournal article002006475410.1136/jmg.2003.0101570001882176000182-s2.0-164245174350133