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Hum. Reprod. Advance Access originally published online on February 23, 2006
Human Reproduction 2006 21(6):1477-1483; doi:10.1093/humrep/dei495
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Published by Oxford University Press 2006 on behalf of the European Society of Human Reproduction and Embryology.

Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature

Flavio Rizzolio1, Silvia Bione1,2, Cinzia Sala1, Mara Goegan1, Mattia Gentile3, Giuliana Gregato4, Elena Rossi4, Tiziano Pramparo4, Orsetta Zuffardi4 and Daniela Toniolo1,5

1 DIBIT, San Raffaele Scientific Institute, Milano, 2 Institute of Molecular Genetics, CNR, Pavia, 3 Department of Medical Genetics, I.R.C.C.S. Saverio de Bellis, Castellana Grotte (Bari) and 4 Department of Pathology and Medical Genetics, University of Pavia, Pavia, Italy

5 To whom correspondence should be addressed at: DIBIT, San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milano, Italy. E-mail: daniela.toniolo{at}hsr.it

BACKGROUND: Chromosomal rearrangements in Xq are frequently associated with premature ovarian failure (POF) and have defined a POF ‘critical region’. Search for genes responsible for the disorder has been elusive. METHODS: We report mapping of novel breakpoints of X;autosome-balanced translocations and interstitial deletions and a review of published X chromosome rearrangements. RESULTS: All the novel POF-associated rearrangements were mapped outside and often very distant from genes. The majority mapped to a gene-poor region in Xq21. In the same region, deletions were reported in women who apparently did not have problems conceiving. Expression analysis of genes flanking breakpoints clustered in a 2-Mb region of Xq21 failed to demonstrate ovary-specific genes. CONCLUSIONS: Our results excluded most of the possible explanations for the POF phenotype and suggested that POF should be ascribed to a position effect of the breakpoints on flanking genes. We also showed that while the X breakpoint may affect X-linked genes in the distal part of Xq, from Xq23 to Xq28, interruption of the critical region in Xq21 could be explained by a position effect of the Xq critical region on genes flanking the autosomal breakpoints.

Key words: chromosome rearrangements/gene mapping/premature ovarian failure/Xq


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