Syndromale Formen geistiger Behinderung |
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Authors: | Prof Dr G Gillessen-Kaesbach |
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Institution: | 1. Institut für Humangenetik, Universit?tsklinikum Schleswig-Holstein, Campus Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Deutschland
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Abstract: | Mental retardation of varying degree is a major component of genetic syndromes. Affected individuals with the same disorder may show different degrees of mental retardation. Making a diagnosis is a great challenge for clinical geneticists, especially because of the wide clinical variability. Besides carefully evaluating the family history and conducting a clinical examination, consideration of guiding clinical signs – including obesity, macrosomy, microcephaly, prenatal or/and postnatal growth restriction, and multiple congenital anomalies – is very helpful in establishing the correct clinical diagnosis. Modern cytogenetic and molecular cytogenetic techniques help clarify the etiology and define new disease nosologies. |
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