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- W2093060116 abstract "The task of assigning a diagnosis to cases of mental handicap can be daunting and frustrating. A cause can be established for only about 65% of cases of moderate to severe mental handicap. 1 Raynham H Gibbons R Flint J Higgs D The genetic basis for mental retardation.. QJM. 1996; 89: 169-175 Crossref PubMed Scopus (38) Google Scholar Beyond the obvious desire to make an accurate diagnosis in individual cases for clinical management, ascertaining a cause for the mental handicap, whether genetic or environmental, may also provide information that may be used to counsel other family members. For many years, chromosome anomalies have been known to be an important causal factor in mental handicap. In the early days of human cytogenetics, it quickly became evident that most chromosome abnormalities that had missing or extra genetic material were associated with some degree of mental handicap, and almost three decades ago Breg and co-workers 2 Breg WR Miller DA Allerdice PW Miller OJ Identification of translocation chromosomes by quinacrine fluorescence.. Am J Dis Child. 1972; 123: 561-564 PubMed Google Scholar hypothesised that apparently balanced chromosomal rearrangements were associated with mental handicap. Subtle chromosomal rearrangements in children with unexplained mental retardationOnce recognisable syndromes have been excluded, abnormalities that include the ends of chromosomes are the commonest cause of mental retardation in children with undiagnosed moderate to severe mental retardation. Owing to the high prevalence of familial cases, screening for subtle chromosomal rearrangements is warranted in children with unexplained moderate to severe mental retardation. Full-Text PDF" @default.
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- W2093060116 title "Defining the chromosomal basis of mental handicap" @default.
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- W2093060116 doi "https://doi.org/10.1016/s0140-6736(99)00246-9" @default.
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