Fertil Steril. 1991 Mar;55(3):631-3.

Premature menopause because of an inherited deletion in the long arm of the X-chromosome.

Veneman TF, Beverstock GC, Exalto N, Mollevanger P.

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Department of Obstetrics and Gynecology, Spaarne Ziekenhuis Haarlem, The Netherlands.

Abstract

A family is described in which both a mother and an infertile daughter had premature menopause at the ages of 31 and 28 years, respectively. Initially, an extensive investigation revealed no apparent cause for their conditions. However, when cytogenetic analysis in the daughter was performed, a terminal deletion in the long arm of one of the X-chromosomes was found. The karyotype was: 46,Xdel(X),(q25-qter). Chromosomal investigation in the mother showed an identical deletion. The karyotype of the patient's 35-year-old sister is normal. She has a normal menstrual cycle and two normal children. The presence of such familial cases suggests that chromosomal investigation should be considered in young women with oligomenorrhea, especially those whose mothers have experienced a premature menopause.

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Fertil Steril. 1991 Dec;56(6):1206-7.

PMID:: 2001764; [PubMed - indexed for MEDLINE]

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Cited by 2 PubMed Central articles

X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation. [Mol Cytogenet. 2010]
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