Polymorphic detection of a parthenogenetic maternal and double paternal contribution to a 46,XX/46,XY hermaphrodite

American Journal of Human Genetics
J C GiltayC Wijmenga


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.


Jun 1, 1992·Human Reproduction·M Plachot, N Crozet
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Jan 1, 1983·Human Genetics·E SchoenleE R Froesch
Jan 1, 1981·Human Genetics·W A van Niekerk, A E Retief
Oct 1, 1995·Nature Genetics·L StrainD T Bonthron
Oct 1, 1994·Journal of Medical Genetics·A J GreenJ R Yates

❮ Previous
Next ❯


Dec 8, 2004·American Journal of Medical Genetics. Part a·Denise I QuigleyShawn E McCandless
Jul 5, 2001·Prenatal Diagnosis·M C PhelanW Blackburn
Dec 14, 2006·Human Genetics·Vivienne L SouterGrant W Montgomery
Dec 16, 2004·Journal of Human Genetics·Kiyonori Miura, Norio Niikawa
Jul 11, 2003·The New England Journal of Medicine·Vivienne L SouterIan A Glass
Feb 2, 2002·Clinical Dysmorphology·Paul Brennan, Christine Hall
Oct 21, 2006·Current Opinion in Hematology·Camilla Drexler, Thomas Wagner
Feb 3, 1999·Proceedings of the National Academy of Sciences of the United States of America·R A BankJ M TeKoppele
Aug 29, 2006·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Hsiao-Lin HwaLi-Shu Chang
May 11, 2010·Medical Hypotheses·M Kemal Irmak
Oct 14, 2004·American Journal of Medical Genetics. Part a·Paulien TerhalJacques Giltay
Nov 2, 2006·Transfusion·Mira MosebachMarcell U Heim
Oct 10, 2006·Clinical Genetics·V MalanC Turleau
Jan 22, 2009·Annals of the New York Academy of Sciences·M RamsayT de Ravel
Aug 31, 2010·American Journal of Medical Genetics. Part a·Johanna WinbergAnn Nordgren
Jul 24, 2012·American Journal of Medical Genetics. Part a·So Youn ShinEul-Ju Seo
Aug 29, 2012·Cytoskeleton·Amy Shaub MaddoxJulien Dumont
Oct 18, 2012·Case Reports in Genetics·Lakshmi Rao KandukuriLalji Singh
Feb 22, 2008·Journal of Child Health Care : for Professionals Working with Children in the Hospital and Community·Ethelwyn RebeloGraeme Pitcher
Feb 28, 2019·The New England Journal of Medicine·Michael T GabbettNicholas M Fisk
Apr 12, 2020·Journal of Human Genetics·Rie KawamuraMariko Taniguchi-Ikeda
Dec 23, 2006·Human Reproduction·Wendy P RobinsonDeborah E McFadden
Apr 7, 2009·Journal of Pediatric Endocrinology & Metabolism : JPEM·Mathijs BinkhorstBarto J Otten
May 4, 2020·International Journal of Legal Medicine·Sohee ChoSoong Deok Lee
Jan 27, 2005·The Journal of Obstetrics and Gynaecology Research·Lakshmi RaoLalji Singh

❮ Previous
Next ❯

Related Concepts

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.


Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.


Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.