X long arm deletion with oligomenorrhoea

Abstract

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. Deletion of the long arm of the X chromosome is one of the most frequent structural aberrations of this chromosome. Fertility and reproduction are affected by these chromosomal anomalies. This paper presents a patient with a deletion of the long arm of the X chromosome and oligomenorrhoea.