Inversion 8 and consecutive trisomy of region 8q22----qter |
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| Authors: | M Andrle A Erlach C Schweizer |
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| Institution: | Abteilung für entwicklungsgest?rte Kinder, Neurologisches Krankenhaus der Stadt, Wien-Rosenhügel. |
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| Abstract: | A girl with severe mental retardation and conspicuous phenotype features is described. The chromosomal aberration consists of a partial trisomy 8q of the region 8q22----qter. Minor deletion of the terminal part of the region 8p23 must be presumed, resulting in partial monosomy of this region. Inversion of chromosome 8 was found in the father and his mother. |
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