[Inversion 8 and consecutive trisomy of region 8q22----qter].
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.
Abteilung für entwicklungsgestörte Kinder, Neurologisches Krankenhaus der Stadt, Wien-Rosenhügel.
M
M
Andrle
A
A
Erlach
C
C
Schweizer
D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D010641:Phenotype; D014314:Trisomy
Inversion 8 und konsekutive Trisomie der Region 8q22----qter.