Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation
Open Access
- 1 January 2004
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 41 (1) , 1e-1
- https://doi.org/10.1136/jmg.2003.010157
Abstract
RS has three different manifestations: (a) as part of a known syndrome; (b) in association with other abnormalities that do not constitute a recognisable syndrome (non-syndromic), and (c) in a classical or isolated form not associated with any other significant findings.3, 6, 10 Approximately 20–40% of reported RS cases occur in an isolated form, while between 35 and 70% of cases are syndromic.11– 15 The most common syndromes associated with RS include Stickler syndrome and velocardiofacial syndrome.15, 16 While the underlying genetic factors in a number of the syndromes that include RS have been delineated,17– 19 the genetic basis for isolated RS remains unclear.Keywords
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