Distal long arm deletions of the X chromosome and ovarian failure.

A mother and daughter are described with premature menopause and deletion of the X chromosome at q28. Structural anomalies of the X chromosome and ovarian failure are well known.' Secondary amenorrhoea, recognised as premature menopause and involving an X chromosomal deletion, has only been described on two occasions, the breakpoints being at q252 and q26.3 We describe familial inheritance of an X chromosome with a deletion at q28 in mother and daughter, both ofwhom are reported to have premature menopause. Case report The proband (the second and last child) presented at the gynaecological clinic with secondary amenorrhoea at the age of 28 years. Her periods had started at the age of 14 years. They were described as 'painful' and, for this reason, she started taking the combined oral contraceptive pill at the age of 17 years. She continued taking various preparations of the combined oral contraceptive pill for the next 11 years, finally stopping eight months before presentation. She had not menstruated since stopping the pill. Episodes of flushing and sweating were reported. Physical examination proved normal. She was of normal height with full development of secondary sex characteristics and no stigmata of Turner's syndrome. Pelvic examination was normal; normal anatomy had been previously found on ultrasound scanning. Endocrinological investigations showed the followDepartment of Obstetrics and Gynaecology, St David's Hospital, Bangor, Gwynedd. A Bates Regional Cytogenetics Unit, Royal Liverpool Hospital, PO Box 147, Liverpool L69 3BX. P J Howard Correspondence to Mr Howard. * 2212