A case of true hermaphroditism reveals an unusual mechanism of twinning

@article{Souter2006ACO,
  title={A case of true hermaphroditism reveals an unusual mechanism of twinning},
  author={Vivienne L. Souter and Melissa A Parisi and Dale R. Nyholt and Raj P. Kapur and Anjali K. Henders and Kent E. Opheim and Daniel F. Gunther and Michael E. Mitchell and Ian A. Glass and Grant W. Montgomery},
  journal={Human Genetics},
  year={2006},
  volume={121},
  pages={179-185}
}
Traditionally twins are classified as dizygous or fraternal and monozygous or identical (Hall Twinning, 362, 2003 and 735–743. [...] Key Method 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.Expand
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This paper represents the first report of the molecular investigation of mosiacism/chimerism as the cause of hermaphroditism in black southern African patients and is the second report worldwide of a 46,XX/47,XY,+21 chimera. Expand
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A case of chimerism in a paternity study
TLDR
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Microchimerism in twins
TLDR
The results of this study confirm the occurrence of chimerism in twins and constitutes the starting point for further studies aimed at determining the clinical significance of chiming in twins both for women and fetuses. Expand
Non‐identical monozygotic twins, intermediate twin types, zygosity testing, and the non‐random nature of monozygotic twinning: A review
  • G. Machin
  • Medicine
  • American journal of medical genetics. Part C, Seminars in medical genetics
  • 2009
TLDR
The types of genetic/epigenetic and prenatal environmental post‐zygotic mechanisms that cause discordance within MZ twin pairs are discussed, and intermediate trigametic and tetragametic chimeric dizygotic twins are reviewed, some of whom are, nevertheless, monochorionic (MC). Expand
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True hermaphroditism: Geographical distribution, clinical findings, chromosomes and gonadal histology
TLDR
The most common gonad in patients with true hermaphroditism, an ovotestis, was found in 44.4% of 568 gonads, and Histologically the testicular tissue was described to be immature and only twice was spermatogenesis reported while the ovarian portion often appeared normal. Expand
A dispermic chimerism in a 2-year-old Caucasian boy
TLDR
This case of chimerism represents a true hermaphroditism that most probably developed by double fertilization of one or more egg nuclei by two sperms, with two alleles inherited from the father and one from the mother. Expand
Polymorphic detection of a parthenogenetic maternal and double paternal contribution to a 46,XX/46,XY hermaphrodite.
TLDR
A 5-year-old patient is described with true hermaphroditism and a 46,XX/46,XY karyotype in lymphocytes, suggesting involvement of two fertilization events, and microsatellite DNA polymorphisms distributed throughout the genome were analyzed to investigate the origin of the cell lines concerned. Expand
Molecular biologic analyses of tetragametic chimerism in a true hermaphrodite with 46,XX/46,XY.
TLDR
The two cell lineages composing the true hermaphrodite are heterogeneous because those originated from the fertilization of two genetically different maternal haploid cells by two different spermatozoa. Expand
Mosaic or chimera? Revisiting an old hypothesis about the cause of the 46,XX/46,XY hermaphrodite.
TLDR
The data suggest that the patient's hermaphroditism was the result of a mosaic embryo and not a chimera, resulting in the loss of 47,XXY cells during early embryonic development. Expand
Origin of chi46,XX/46,XY chimerism in a human true hermaphrodite.
TLDR
Using chromosome heteromorphisms and blood cell types as genetic markers, chimerism in a chi46,XX/46,XY true hermaphrodite is demonstrated and it is concluded that this individual was probably conceived by the fertilization, by two different spermatozoa, of an ovum and the second meiotic division polar body derived from the Ovum and subsequent fusion of the two zygotes. Expand
The organization of the oocyte and embryogenesis in twinning and fusion malformations.
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TLDR
A potential resolution is offered by way of a mechanism common to MZ and DZ twinning, involving a relationship between oocyte organization and the determination of body symmetries, which might share causal elements at least some of which are heritable. Expand
A true hermaphrodite chimera resulting from embryo amalgamation after in vitro fertilization.
TLDR
High rates of successful pregnancy after in vitro fertilization depend on placing more than one embryo into the mother, a practice resulting in a 30-to-35-fold increase in dizygotic-twin deliveries, and the presence in a single person of cells derived from two or more zygotes is one such rare anomaly. Expand
Blood group chimerism in human multiple births is not rare.
TLDR
Using a sensitive fluorescence technique, blood group chimerism was detected in 32/415 (8%) twin pairs and 12/57 (21%) triplet pairs, respectively, which is a higher incidence than reported previously. Expand
Postzygotic diploidization of triploids as a source of unusual cases of mosaicism, chimerism and twinning.
TLDR
It is argued that dispermic zygotes, in contrast to digynic ones, are characterized by cytogenetic phenomenon described here as postzygotic diploidization of triploids (PDT), which could have an explanation for the broad spectrum of odd reproductive cytogenetics events and might provide additional alternatives and definite predictions. Expand
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