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[Inversion 8 and consecutive trisomy of region 8q22----qter]
M Andrle1, A Erlach, C Schweizer
1Abteilung für entwicklungsgestörte Kinder, Neurologisches Krankenhaus der Stadt, Wien-Rosenhügel.
Wiener Klinische Wochenschrift
|September 25, 1987
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.