PMID: 2315275Jan 1, 1990Paper

Fetal blood sampling demonstrating chimerism in monozygotic twins discordant for sex and tissue karyotype (46,XY and 45,X)

Prenatal Diagnosis
W GonsoulinF F Elder


Fetal blood sampling has been used in the genetic work-up of twin gestations for rapid karyotyping. We present a case of twins which on ultrasound evaluation revealed hydrops fetalis in one twin and a normal second twin. Fetal blood sampling revealed the presence of mosaicism for 46,XY/45,X in both twins. HLA antigen testing showed the twins to be identical. The patient elected pregnancy termination. Blood chromosomal analysis after delivery revealed both twins to have 46,XY/45,X mosaicism, but the twin with signs of hydrops fetalis had tissue chromosomes of 45,X and the normal twin had tissue chromosomes of 46,XY. Amniotic fluid chromosomal analysis revealed 46,XY in twin A and 45,X in twin B. This represents a case of identical (monozygotic) twins with sex discordance. In this case, there was the probable occurrence of post-zygotic chromosomal non-disjunction leading to the discordancy of the sex in this set of twins. With the presence of vascular communication in monozygotic twins, there is the possibility of exchange of blood in monozygotic twins and the result of blood chimerism in twins.


May 1, 1986·Archives of Disease in Childhood·W SzymonowiczV Y Yu
Jun 21, 1973·The New England Journal of Medicine·K Benirschke, C K Kim
Sep 15, 1983·American Journal of Obstetrics and Gynecology·E G Robertson, K J Neer
Jan 1, 1984·Acta geneticae medicae et gemellologiae·F O RedwineJ Brown

❮ Previous
Next ❯


Dec 13, 2000·Prenatal Diagnosis·O SchmidE Beinder
Jun 1, 2005·Clinics in Perinatology·Meredith RochonJoanne Stone
Sep 11, 2002·Clinical Genetics·S M SinghR O'Reilly
Mar 1, 1993·Clinical Genetics·H TsukamotoS Okada
Oct 1, 1994·Journal of Medical Genetics·A J GreenJ R Yates
Jul 27, 2011·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Gareth BaynamMark Walters
Mar 4, 2011·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A ReussB Eiben
Sep 3, 2004·The Journal of Pediatrics·Colm P F O'DonnellAmanda Sampson
Mar 12, 1999·Prenatal Diagnosis·A NieuwintK Madan
Mar 9, 2007·Prenatal Diagnosis·M GrynbergF Carré-Pigeon
Aug 1, 1990·Prenatal Diagnosis·J M Sánchez, E Goldschmidt
Apr 25, 2007·Prenatal Diagnosis·F J Fernández-MartínezE Barreiro
Mar 1, 1994·American Journal of Medical Genetics·T C Falik-BorensteinR R Schreck
Dec 1, 1990·American Journal of Medical Genetics·E J PerlmanG M Hutchins
Feb 14, 2006·American Journal of Medical Genetics. Part a·Sylvie BourthoumieuCatherine Yardin
Jun 26, 2020·Molecular Genetics & Genomic Medicine·Ken TakahashiHaruhiko Sago
Nov 1, 1993·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·H EufingerE Machtens
Dec 30, 1996·American Journal of Medical Genetics·D F WyszynskiT H Beaty
Apr 16, 2005·American Journal of Medical Genetics. Part a·Sylvie BourthoumieuFrançoise Esclaire

❮ 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.