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

• Published in: American journal of human genetics Vol. 62; no. 4; pp. 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: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.04.1998; University of Chicago Press
• 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; Parthenogenesis; Cytogenetics; Mosaicism; DNA polymorphisms; Chimerism; Hermaphrodite; Endocrinopathy; Human; Pathogenesis; Congenital disease; Genital diseases; Case study; Malformation; Hermaphroditism; Parental origin; Child; Karyotype
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1086/301796

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.