Inversion 8 and consecutive trisomy of region 8q22----qter

Andrle, M.; Erlach, A.; Schweizer, C.

Wiener Klinische Wochenschrift 99(18): 638-641

1987


ISSN/ISBN: 0043-5325
PMID: 3687023
Document Number: 302907
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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