Genes on the X chromosome are important in undiagnosed mental retardation

The clinical genetic diagnosis was reviewed in 429 subjects with intellectu al disability in the Australian Child and Adolescent Development (ACAD) stu dy of behavioural problems. With minor differences, the overall "general di stribution by causation" was similar to that to that found by the Consensus Conference of the American College of Medical Genetics in 1995, There was a significant male excess in the whole series which was shown to reside in those with "autism," those with undiagnosed nonsyndromic mental retardation (NSMR) and those with X-linked monogenic disorders. It is argued that a su bstantial proportion of undiagnosed NSMR is caused by genes on the X chromo some. Some of the practical problems of assigning individuals to diagnostic groups are discussed. Am. J, Med. Genet, 92:57-61, 2000, (C) 2000 Wiley-Li ss, Inc.