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

Additional reports have also indicated that there may be an RS locus at 17q23.3-25 34, 36 although no gene has been isolated. [...]Houdayer et al reported a case of non-syndromic RS that co-segregated with an unbalanced reciprocal translocation involving an interstitial deletion of chromosome 2 (2q32.3-q33.2), and suggested this locus as a candidate region for non-syndromic RS. 35 This hypothesis is further strengthened by a previous report indicating involvement of the 2q32 locus in the pathogenesis of isolated cleft palate. 38 Table 1 Clinical findings in reported cases with chromosomal rearrangement involving chromosome 2 and/or 17 Classical RS phenotype Other findings Cytogenetics FISH data References + None t(2; 17)(q23; q23.3) t(2; 17)(q24.1; q24.3) Present case + Limb, ear abnormalities t(2; 21)(q33.2;q21.2) t(2; 21)(q32.3-q33.2) Houdayer et al 35 + Other skeletal abnormalities t(13;17)(q22.1;q23.3) Not described Stalker et al 36 + None t(3;17)(q25->qter) Not described Luke et al 34 + Ear abnormalities t(5;17)(q15;q23) Not described Vintiner et al 33 Key points Robin sequence (RS) is a developmental anomaly characterised by micrognathia, cleft palate, and glossoptosis. [...]there have been no available data defining the exact breakpoint region on chromosome 17. [...]while the involvement of a locus on chromosome 2q24 cannot be excluded, the case does seem stronger in favour of the location of the gene responsible for isolated RS to be at chromosome 17q24.1.