Finding new etiologies of mental retardation and hypotonia: X marks the spot
R Curtis Rogers1, Roger E Stevenson, Richard J Simensen
1Greenwood Genetic Center, Greenwood, SC, USA. crogers@ggc.org
Abstract:
Mental retardation (MR) and hypotonia occur together frequently and have a heterogeneous etiology. Molecular and clinical studies have led to the recent discovery of genes on the X chromosome that may be associated with syndromal forms of X-linked MR (XLMR). These disorders manifest additional neurological and somatic features that are helpful in establishing a specific diagnosis and etiology. This article provides an overview of MR and its association with hypotonia, with a review of five 'new' XLMR-hypotonia syndromes.
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