Polymorphic Detection of a Parthenogenetic Maternal and Double Paternal Contribution to a 46,XX/46,XY Hermaphrodite

True hermaphroditism in humans usually is associated with a 46,XX karyotype or with mosaicism in which admixtures of cells with an XX and an XY karyotype are seen. However, the mechanisms that cause such mosaicisms are poorly understood. To date, with rare exceptions, analyses of hermaphrodites have...

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Bibliographic Details
Published in:American journal of human genetics 1998-04, Vol.62 (4), p.937-940
Main Authors: Giltay, Jacques C., Brunt, Tibor, Beemer, Frits A., Wit, Jan-Maarten, Ploos van Amstel, Hans Kristian, Pearson, Peter L., Wijmenga, Cisca
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child, Preschool
Chimerism
Cytogenetics
Disorders of Sex Development - genetics
DNA polymorphisms
DNA, Satellite - genetics
Female
Genome, Human
Gynecology. Andrology. Obstetrics
Hermaphrodite
Humans
Karyotyping
Male
Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance
Medical sciences
Mosaicism
Parthenogenesis
Polymorphism, Genetic
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Summary:True hermaphroditism in humans usually is associated with a 46,XX karyotype or with mosaicism in which admixtures of cells with an XX and an XY karyotype are seen. However, the mechanisms that cause such mosaicisms are poorly understood. To date, with rare exceptions, analyses of hermaphrodites have been limited mostly to cytogenetic investigations. In this report, we describe a 5-year-old patient with true hermaphroditism and a 46,XX/46,XY karyotype (ratio 38:12) in lymphocytes, suggesting involvement of two fertilization events. Microsatellite DNA polymorphisms distributed throughout the genome were analyzed, to investigate the origin of the cell lines concerned. The results are consistent with double paternal and single maternal genetic contributions. Possible mechanisms that would explain these findings are discussed. The most likely mechanism involves a single haploid ovum dividing parthenogenetically into two haploid ova, followed by double fertilization and fusion of the two zygotes into a single individual, at the early embryonic stage.
ISSN:0002-9297
1537-6605
DOI:10.1086/301796