Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome.
We describe a family in which four women had menstrual irregularities and a partial deletion of the long arm of the X chromosome (Xq). Three of the four women had premature ovarian failure (at the ages of 24 to 37 years). Chromosome-banding studies initially suggested that a terminal portion of Xq was deleted. However, DNA-hybridization studies showed that an interstitial portion of Xq was deleted and that the affected women had a 46,XX,del(X)(pter-q21.3::q27-qter) karyotype. These findings help clarify the role of Xq in ovarian function and indicate that the accurate description of such abnormalities requires a combination of cytogenetic and DNA-hybridization analysis.
D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D009693:Nucleic Acid Hybridization; D010049:Ovarian Diseases / Q000235:genetics* / Q000503:physiopathology; D014960:X Chromosome
D004247:DNA