X long arm deletion with oligomenorrhoea.
A 35-year-old female patient with oligomenorrhoea had a deletion of the long arm of the X chromosome. The breakpoint at band q23 caused infertility in spite of excessive pituitary stimulation. The aberrant X chromosome was inactivated in all cells analysed.
D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D007621:Karyotyping; D008599:Menstruation Disturbances / Q000235:genetics*; D009839:Oligomenorrhea / Q000235:genetics*; D012730:Sex Chromosomes; D014960:X Chromosome