Abstract
Mental retardation (MR) is defined as an overall “intelligence quotient” (IQ) <70, associated with functional deficits in adaptive behaviour (such as daily-living skills, social skills and communication), with an onset before 18 years (1). Approximately 2–3% of the population have an intelligence quotient (IQ) <70 (2,3) and at least 0.3% of individuals are severely handicapped (IQ <50) (Table 1), yet a cause for mental retardation is established in less than half of all cases (4). The underlying causes of MR are extremely heterogeneous (Table 2). In addition to multiple nongenetic factors that act prenatally or during early infancy and cause brain injury, chromosomal anomalies, such as aneuploidy syndromes, for example, Down syndrome, the microdeletion syndromes, for example, Prader—Willi, Angelman, Miller—Dieker, Smith—Magenis, and Williams syndromes, represent an important genetic cause of MR. Recent studies suggest that chromosomal rearrangements that affect the telomeric regions of autosomes, not detectable by conventional cytogenetic analysis, may account for up to 7% of moderate to severe MR (5,6). Genetic causes may be involved in one half of severely retarded patients (7). Some disorders for which the gene is identified affect relatively significant numbers of patients and families, such as the fragile X syndrome (which affects approx 1/4000–6000 males) (8,9) and Rett syndrome (1/10,000–15,000 girls) (10),but our knowledge of these monogenic causes is still far from complete.
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Chelly, J., Hamel, B.C.J. (2003). Genetics of X-Linked Mental Retardation. In: Fisch, G.S. (eds) Genetics and Genomics of Neurobehavioral Disorders. Contemporary Clinical Neuroscience. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-353-8_11
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DOI: https://doi.org/10.1007/978-1-59259-353-8_11
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