Abstract:Mental retardation (MR) affects 1–3% of the population. It can be subdivided into syndromic and nonsyndromic forms. The empiric recurrence risk for siblings in families with a mentally retarded child is 8–10%. Gross chromosomal imbalances are implicated in the aetiology in 10–24% of cases and cryptic chromosomal imbalances in about 10%. In families with X‐linked MR (XLMR) a disease‐causing mutation can be identified in 42%; in families with autosomal recessive MR a causative mutation can be identified only rar… Show more
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