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Human Reproduction, Vol. 17, No. 5, 1154-1157, May 2002
© 2002 European Society of Human Reproduction and Embryology

Lack of submicroscopic rearrangements involving telomeres in reproductive failures

B. Benzacken1,5, L. Carbillon2, C. Dupont1, J.P. Siffroi4, F. Monier-Gavelle1, M. Bucourt3, M. Uzan2 and J.P. Wolf1

1 Service d'Histologie Embryologie Cytogénétique BDR, 2 Service de Gynécologie et d'Obstétrique and 3 Service d'anatomopathologie et Foetopathologie, Hôpital Jean Verdier, avenue du 14 Juillet, 93140 Bondy, 4 Service d'Histologie, Biologie de la Reproduction et Cytogénétique, Hôpital Tenon, 4 rue de la Chine 75020 Paris, France and Laboratoire de Cytologie Histologie, UFR Biomédicale, 45 rue des Saints-Pères, 75006, Paris, France

BACKGROUND: It has been recognized that chromosomal abnormalities are one of the most important causes of the high mortality rate in human concepti. Among these abnormalities, the unbalanced transmission of a parental chromosomal rearrangement is frequently observed, and couples with a history of pregnancy losses are therefore referred for genetic counselling and to establish their karyotype. Unbalanced chromosomal rearrangements involving telomeres are emerging as an important cause of mental retardation and/or congenital malformations in humans. As suggested by several authors, they could also be responsible for recurrent miscarriages. The aim of this study was to screen cryptic chromosome abnormalities in couples referred to our laboratory for recurrent unexplained miscarriages. METHODS AND RESULTS: Karyotyping was performed in 57 couples (114 patients). A detectable chromosomal abnormality was diagnosed in seven cases, thus limiting the analysis of telomeres to only 100 patients. Two different protocols were used according to the number of metaphases on slides. No telomeric chromosome abnormality was detected in our study. CONCLUSION: The use of FISH telomeric probes is not of clinical interest in the systematic screening of couples with multiple miscarriages and should be performed only in those with a familial history of mental retardation and congenital malformations.

Key words: FISH/miscarriages/telomeric rearrangements

5 To whom correspondence should be addressed. E-mail: brigitte.benzacken{at}jvr.ap-hop-paris.fr


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