[Sex-linked mental retardation].
It has long been known that among patients with mental retardation males outnumber females. This is the result of mutations in X-chromosomal genes: X-linked mental retardation. Its prevalence has been estimated as 1.8/1000 males with a carrier frequency of 2.4/1000 females. X-linked mental retardation is divided into syndromic and non-specific types. At present there are about 135 syndromic forms known of 26 of which the responsible genes and mutations have been found. 8 genes are known in which mutations have been found in non-specific X-linked mental retardation. It is estimated that about 100 genes are involved in the latter. These genes are in particular involved in the function of the central nervous system. The development of a complete genetic map of the X-chromosome and the introduction of microarray techniques will in the short term enormously enhance the elucidation of X-linked mental retardation.
Hamel
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BC
Universitair Medisch Centrum St Radboud, afd. Antropogenetica, HB Nijmegen. b.hamel@antrg.azn.nl
Poppelaars
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FA
D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D015994:Incidence; D008607:Intellectual Disability / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D009154:Mutation; D009426:Netherlands / Q000453:epidemiology; D012729:Sex Chromosome Aberrations / Q000453:epidemiology / Q000235:genetics* / Q000523:psychology; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics*