46,XX/46,XY chimerism in a phenotypically normal man

@article{Schoenle200446XX46XYCI,
  title={46,XX/46,XY chimerism in a phenotypically normal man},
  author={E. Schoenle and W. Schmid and A. Schinzel and M. Mahler and M. Ritter and T. Schenker and M. Metaxas and P. Froesch and E. Froesch},
  journal={Human Genetics},
  year={2004},
  volume={64},
  pages={86-89}
}
SummarySome twenty cases of dispermic chimeras with the karyotype 46,XX/46,XY, discovered because of gonadal dysplasias or a true hermaphroditism, have been reported. This is a report of a phenotypically normal man with 46,XX/46,XY chimerism in whom a prepubertal finding of positive X-chromatin was interpreted as Klinefelter syndrome. The diagnosis was revised 11 years later when the family doctor, who doubted the earlier diagnosis because of the patient's normal-sized testes, sent him to an… Expand
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A new case of chimerism (46,XX/46,XY) diagnosed at 17 weeks' gestation on amniocentesis performed because of advanced maternal age is reported, and a healthy baby girl was delivered at term. Expand
A Healthy, Female Chimera with 46,XX/46,XY Karyotype
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A healthy and unambiguously female newborn, whose phenotypic sex contradicted the expected male sex based on previously performed prenatal cytogenetic analysis, is reported, and the exclusive involvement of 46,XX cells in gonad formation is postulated. Expand
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The case was ten months aged child, born to non-consanguinous couple referred to Cytogenetics unit of Immunology Department of BIRDEM General Hospital for chromosomal analysis and Karyotyping with the chief complaint of right sided undescended testis, who was normal looking and playful. Expand
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Clinical and Genetic Analysis of an Infertile Male with 46,XX/46,XY Chimerism
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A case of this sex chromosome‐discordant chimerism 46,XX/46,XY diagnosed by cytogenic and molecular analyses of peripheral blood in a phenotypically normal male who was referred to the authors' facility for infertility is reported. Expand
Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia
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The findings suggest that the observed complex DSD phenotype is the result of somatic gonosomal mosaicism and UPD despite a normal blood karyotype, and the presence of UPD warrants adequate genetic counseling for the family and frequent, lifelong, preventive follow-up controls in the patient. Expand
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The application of various molecular genetic testing methods was used to elucidate the chimerism observed in the proband in this study, and dispermic fertilization was suggested as the underlying mechanism. Expand
Case of successful IVF treatment of an oligospermic male with 46,XX/46,XY chimerism
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A unique case with 46,XX/46,XY chimerism confirmed to be tetragametic, demonstrated in several tissues, with male phenotype and no genital ambiguity with oligospermia fathering a healthy child after IVF with ICSI procedure is reported. Expand
High‐level 46XX/46XY chimerism without clinical effect in a healthy multiparous female
TLDR
Normal fertility and the presence of female offspring are unique findings in this case and raises the possibility that chimerism with a normal phenotype may be an underappreciated outcome even in the absence of sex chromosome discordance. Expand
[Blood cell chimerism in dizygotic twins conceived by in vitro fertilization].
TLDR
Blood chimerism was confirmed by performing FISH on the buccal cells of the patients and microsatellite analyses of blood DNA revealed tetra-allelic contribution at some autosomal loci with similar proportions of maternal and paternal alleles and X/Y chromosome dose. Expand
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