[Dwarfism in pericentric inversion of the X-chromosome].
We report on a 9 2/12 year old girl with pericentric inversion of the X-chromosome. It was diagnosed accidentally by a chromosome-analysis led through because of small stature. She bears a strong phenotypic resemblance to her mother (normal chromosomes), carrier of the pericentric inversion however is the phenotypically normal father. The breakpoint of the X-chromosome not lying within the critical region suggests that the patient will neither suffer a gonadal dysfunction. Both short stature and phenotypic dysmorphic features have familial cause.
Beyer
R
R
Klinik mit Poliklinik für Kinder und Jugendliche, Friedrich-Alexander Universität Erlangen-Nürnberg.
Wild
F
F
Singer
H
H
Pfeiffer
R
R
Dörr
H G
HG
D002648:Child; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome