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

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dc.contributor.authorJamshidi, N.
dc.contributor.authorMacciocca, I.
dc.contributor.authorDargaville, P.
dc.contributor.authorThomas, P.
dc.contributor.authorKilpatrick, N.
dc.contributor.authorMcKinlay Gardner, R.
dc.contributor.authorFarlie, P.
dc.date.issued2004
dc.description© 2004 BMJ Publishing Group Limited
dc.description.abstractRobin 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.
dc.description.statementofresponsibilityN Jamshidi, I Macciocca, P A Dargaville, P Thomas, N Kilpatrick, R J McKinlay Gardner and P G Farlie
dc.identifier.citationJournal of Medical Genetics, 2004; 41(1):e1-e5
dc.identifier.doi10.1136/jmg.2003.010157
dc.identifier.issn0022-2593
dc.identifier.issn1468-6244
dc.identifier.urihttp://hdl.handle.net/2440/34832
dc.language.isoen
dc.publisherBritish Med Journal Publ Group
dc.source.urihttps://doi.org/10.1136/jmg.2003.010157
dc.subjectBAC, bacterial artificial chromosome
dc.subjectFISH, fluorescent in situ hybridisation
dc.subjectRS, Robin sequence
dc.titleIsolated Robin sequence associated with a balanced t(2;17) chromosomal translocation
dc.typeJournal article
pubs.publication-statusPublished

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