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A case of true hermaphroditism reveals an unusual mechanism of twinning

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Abstract

Traditionally twins are classified as dizygous or fraternal and monozygous or identical (Hall Twinning, 362, 2003 and 735–743). We report a rare case of 46,XX/46,XY twins: Twin A presented with ambiguous genitalia and Twin B was a phenotypically normal male. These twins demonstrate a third, previously unreported mechanism for twinning. The twins underwent initial investigation with 17-hydroxyprogesterone and testosterone levels, pelvic ultrasound and diagnostic laparoscopy. Cytogenetic analysis was performed on peripheral blood cells and skin fibroblasts. Histological examination and Fluorescence in situ hybridization studies on touch imprints were performed on gonadal biopsies. DNA analysis using more than 6,000 DNA markers was performed on skin fibroblast samples from the twins and on peripheral blood samples from both parents. Twin A was determined to be a true hermaphrodite and Twin B an apparently normal male. Both twins had a 46,XX/46,XY chromosome complement in peripheral lymphocytes, skin fibroblasts, and gonadal biopsies. The proportion of XX to XY cells varied between the twins and the tissues evaluated. Most significantly the twins shared 100% of maternal alleles and approximately 50% of paternal alleles in DNA analysis of skin fibroblasts. The twins are chimeric and share a single genetic contribution from their mother but have two genetic contributions from their father thus supporting the existence of a third, previously unreported type of twinning.

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Acknowledgments

This study was supported by grants to GWM from the National Health and Medical Research Council of Australia (159100, 339446).

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Banner Good Samaritan Medical Center, 1111 E McDowell Rd, Phoenix, AZ, 85006, USA

    Vivienne L. Souter

  2. Department of Pediatrics, Childrens Hospital and Regional Medical Center, University of Washington, Seattle, WA, USA

    Melissa A. Parisi, Daniel F. Gunther & Ian A. Glass

  3. Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, QLD, Australia

    Dale R. Nyholt, Anjali K. Henders & Grant W. Montgomery

  4. Department of Laboratories, Seattle Childrens Hospital and Regional Medical Center, Seattle, WA, USA

    Raj P. Kapur & Kent E. Opheim

  5. Department of Urology, Seattle Childrens Hospital and Regional Medical Center, Seattle, WA, USA

    Michael E. Mitchell

Authors
  1. Vivienne L. Souter
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  2. Melissa A. Parisi
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  3. Dale R. Nyholt
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  4. Raj P. Kapur
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  5. Anjali K. Henders
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  6. Kent E. Opheim
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  7. Daniel F. Gunther
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  8. Michael E. Mitchell
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  9. Ian A. Glass
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  10. Grant W. Montgomery
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Correspondence to Vivienne L. Souter.

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Souter, V.L., Parisi, M.A., Nyholt, D.R. et al. A case of true hermaphroditism reveals an unusual mechanism of twinning. Hum Genet 121, 179–185 (2007). https://doi.org/10.1007/s00439-006-0279-x

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  • DOI: https://doi.org/10.1007/s00439-006-0279-x

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