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Molecular analysis of the Y chromosome in XX sex-reversed patients

  • Human Genetics
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Abstract

Molecular genetic analysis was performed for 26 phenotypically male patients lacking the Y chromosome in the karyotype. The sex-determining region Y (SRY) gene was found in 77% of the patients. PCR analysis of Y-specific loci in the 17 SRY-positive patients revealed Yp fragments varying in size in 16 cases and cryptic mosaicism (or chimerism) for the Y chromosome in one case. The frequencies of class I, II, and III (Yp+)XX sex reversals were 18.75, 25.25, and 56%, respectively. All of the class III (Yp+)XX sex-reversed patients had a 3.5-Mb paracentric inversion flanked by inverted repeats 3 (IR3) on the short arm of the Y chromosome.

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Authors and Affiliations

  1. Research Center for Medical Genetics, Russian Academy of Medical Sciences, Moscow, 115478, Russia

    V. B. Chernykh, A. L. Chukhrova, N. N. Wasserman, E. V. Il’ina, L. F. Kurilo & A. V. Polyakov

  2. Republican Children’s Clinical Hospital, Ministry of Health of the Russian Federation, Moscow, 117513, Russia

    M. E. Karmanov

  3. Voronezh Interregional Medical Genetic Consultation, Voronezh, 394018, Russia

    V. P. Fedotov

Authors
  1. V. B. Chernykh
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  2. A. L. Chukhrova
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  3. N. N. Wasserman
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  4. E. V. Il’ina
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  5. M. E. Karmanov
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  6. V. P. Fedotov
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  7. L. F. Kurilo
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  8. A. V. Polyakov
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Correspondence to V. B. Chernykh.

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Original Russian Text © V.B. Chernykh, A.L. Chukhrova, N.N. Wasserman, E.V. Il’ina, M.E. Karmanov, V.P. Fedotov, L.F. Kurilo, A.V. Polyakov, 2008, published in Genetika, 2008, Vol. 44, No. 2, pp. 236–241.

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Chernykh, V.B., Chukhrova, A.L., Wasserman, N.N. et al. Molecular analysis of the Y chromosome in XX sex-reversed patients. Russ J Genet 44, 197–201 (2008). https://doi.org/10.1134/S1022795408020129

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  • DOI: https://doi.org/10.1134/S1022795408020129

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