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Analysis of a paracentric inversion in human oocytes: nonhomologous pairing in pachytene

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Abstract.

A cytological analysis of the pairing configurations in meiosis in a 19-week human fetus with a de novo paracentric inversion of chromosome 7 (q11.23)(q21.1) is reported, using fluorescent in situ hybridization with a chromosome 7 DNA library, a DNA probe for the centromeric region of chromosome 7, and a probe for the William Syndrome Critical Region (WSCR) at 7q11.23. Of 1079 pachytene cells, 58% exhibited complete heterosynapsis of the inverted region while only 10.3% of cells exhibited the expected loop formation. Meiotic progression was observed to be normal.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, University of Washington Medical Center, 1959 N.E. Pacific Street, Box 356460, Seattle, WA 98195–6460, USA, , , , ,

    E.Y. Cheng & Y.J. Chen

  2. Department of Pathology, University of Washington Medical Center, Seattle, Washington, USA, , , , ,

    C.M. Disteche

  3. Departments of Medicine and Genetics, University of Washington Medical Center, Seattle, Washington, USA, , , , ,

    S.M. Gartler

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  1. E.Y. Cheng
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  2. Y.J. Chen
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  3. C.M. Disteche
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  4. S.M. Gartler
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Cheng, E., Chen, Y., Disteche, C. et al. Analysis of a paracentric inversion in human oocytes: nonhomologous pairing in pachytene. Hum Genet 105, 191–196 (1999). https://doi.org/10.1007/s004399900120

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  • DOI: https://doi.org/10.1007/s004399900120

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