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Human Genetics

, Volume 107, Issue 4, pp 304–311 | Cite as

Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure

  • Anna Marozzi
  • Emanuela Manfredini
  • Maria Tibiletti
  • Daniela Furlan
  • Nicoletta Villa
  • Walter Vegetti
  • Pier Crosignani
  • Enrico Ginelli
  • Raffaella Meneveri
  • Leda Dalprà
Original Investigation

Abstract.

High-resolution cytogenetic analysis of a large number of women with premature ovarian failure (POF) identified six patients carrying different Xq chromosome rearrangements. The patients (one familial and five sporadic cases) were negative for Turner's stigmata and experienced a variable onset of menopause. Microsatellite analysis and fluorescent in situ hybridization (FISH) were used to define the origin and precise extension of the Xq anomalies. All of the patients had a Xq chromosome deletion as the common chromosomal abnormality, which was the only event in three cases and was associated with partial Xp or 9p trisomies in the remaining three. Two of the Xq chromosome deletions were terminal with breakpoints at Xq26.2 and Xq21.2, and one interstitial with breakpoints at Xq23 and Xq28. In all three cases, the del(X)s retained Xp and Xq specific telomeric sequences. One patient carries a psu dic(X) with the deletion at Xq22.2 or Xq22.3; the other two [carrying (X;X) and (X;9) unbalanced translocations, respectively] showed terminal deletions with the breakpoint at Xq22 within the DIAPH2 gene. Furthermore, the rearranged X chromosomes were almost totally inactivated, and the extent of the Xq deletions did not correlate with the timing of POF. In agreement with previous results, these findings suggest that the deletion of a restricted Xq region may be responsible for the POF phenotype. Our analysis indicates that this region extends from approximately Xq26.2 (between markers DXS8074 and HIGMI) to Xq28 (between markers DXS1113 and ALD) and covers approximately 22 Mb of DNA. These data may provide a starting point for the identification of the gene(s) responsible for ovarian development and folliculogenesis.

Keywords

Chromosomal Abnormality Chromosome Rearrangement Ovarian Development Microsatellite Analysis Premature Ovarian Failure 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 2000

Authors and Affiliations

  • Anna Marozzi
    • 1
  • Emanuela Manfredini
    • 1
  • Maria Tibiletti
    • 2
  • Daniela Furlan
    • 2
  • Nicoletta Villa
    • 3
  • Walter Vegetti
    • 4
  • Pier Crosignani
    • 4
  • Enrico Ginelli
    • 1
  • Raffaella Meneveri
    • 5
  • Leda Dalprà
    • 5
  1. 1.Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy
  2. 2.Department of Clinical and Biological Sciences, Ospedale di Circolo, University of Insubria – Varese, Italy
  3. 3.Cytogenetic Laboratory, San Gerardo dei Tintori Hospital, Monza, Italy
  4. 4.First Department of Obstetrics and Gynecology, University of Milan, Milan, Italy
  5. 5.Department of Biology and Genetics for Medical Sciences, University of Milan, via Viotti 3/5, 20133 Milan, Italy

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