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Hum. Reprod. Advance Access originally published online on December 2, 2004
Human Reproduction 2005 20(1):158-162; doi:10.1093/humrep/deh584
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Human Reproduction vol. 20 no. 1 © European Society of Human Reproduction and Embryology 2004; all rights reserved

Chromosomal instability in two siblings with gonad deficiency: Case report

J. Lespinasse1,7, P. Hoffmann2, A. Lauge3, D. Stoppa-Lyonnet3, F. Felmann4, J.C. Pons2 and G. Lesca5,6

1 Cytogenetic Laboratory, General Hospital, BP 1125, 73011 Chambéry cedex, 2 Gynecology, Obstetric and Reproductive Medicine, University Hospital of Grenoble, BP 217, 38015 Grenoble Cedex, 3 Department of Oncology Genetics, Institut Curie, Paris, 4 Laboratory of Genetics, Regional Hospital, Place St Jacques, 25030 Besançon, 5 Laboratory of Genetics, E.Herriot Hospital, Place d'Arsonval, 69003 Lyon and 6 Claude Bernard–Lyon 1 University, Lyon, France

7 To whom correspondence should be addressed. Email: james.lespinasse{at}ch-chambery.rss.fr

Non-random de novo autosomal chromosomal rearrangements have not been shown to cause exocrine or gonadal dysfunction. We report on two siblings, a brother and a sister, both with de novo chromosomal rearrangements and gonadal deficiency including premature ovarian failure. They had normal phenotypes without additional manifestations of known chromosomal breakage syndromes (except for the gonadal dysfunction) and normal alpha-fetoprotein dosage level. The association of sperm abnormalities in the brother and ovarian dysfunction in the sister suggested an increased spontaneous chromosomal instability. Since the co-occurrence of chromosomal anomalies and reproductive failures may not be coincidental, we performed repeated chromosomal analysis of peripheral blood lymphocytes prior to proposing ICSI for IVF (for the brother). In both sibs, infertility was associated with random and non-random de novo autosomal chromosomal abnormalities. We discuss the possible relationship between these unusual clinical and cytogenetic features and their potential links to ataxia–telangiectasia.

Key words: chromosomal rearrangement/gonadal deficiency/premature ovarian failure


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