Difficult diagnosis and management of an heterokaryotypic monochorionic twin pregnancy with discordant fetal sex and 45,X/47,XYY karyotypes

Fetal and Pediatric Pathology
Caroline BohecMarc De Braekeleer


We report twins for whom ultrasound examinations revealed a Turner syndrome in the female fetus and a normal male fetus. A selective pregnancy termination was decided on the female fetus with hydrops. The death of both twins called in question the chorionic diagnosis. Amniotic fluid cytogenetic analysis revealed a 45,X karyotype in the female twin and a 47,XYY karyotype in the male twin. Molecular cytogenetic analysis on genital and renal cells showed different levels of 45,X/47,XYY mosaicism in both twins; molecular analysis on the amniocytes showed monozygosity. Monozygotic twins with discordant sex are very rare. This study showed the difficult diagnosis and management of a monochorionic twin pregnancy with discordant fetal sex.


Feb 1, 1976·Journal of Medical Genetics·R SchmidtF H Allen
Mar 1, 1975·Journal of Medical Genetics·L KarpP J Fialkow
Jan 1, 1992·Acta geneticae medicae et gemellologiae·K KurosawaY Kuroki
Nov 1, 1991·American Journal of Medical Genetics·A FujimotoK Battersby
Dec 1, 1990·American Journal of Medical Genetics·E J PerlmanG M Hutchins
Feb 1, 1985·Journal of Medical Genetics·B DallapiccolaM Purpura
Jun 1, 1966·Journal of Medical Genetics·J H EdwardsJ Kahn
Oct 15, 1994·American Journal of Medical Genetics·Y YokotaY Nakagome
Jan 22, 1996·American Journal of Medical Genetics·G A Machin
Jun 1, 1996·Current Opinion in Genetics & Development·J G Hall
Mar 12, 1999·Prenatal Diagnosis·A NieuwintK Madan
Apr 6, 1999·American Journal of Medical Genetics·P MastroiacovoA Rosano
Oct 16, 1999·American Journal of Obstetrics and Gynecology·M I EvansR L Berkowitz
Jan 7, 2000·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·U Nicolini, A Poblete
Dec 13, 2000·Prenatal Diagnosis·O SchmidE Beinder
Jul 7, 2001·Early Human Development·P Gringras, W Chen
Apr 24, 2003·Reproductive Biomedicine Online·Santiago MunnéJacques Cohen
Sep 6, 2003·Lancet·Judith G Hall
Sep 20, 2005·Prenatal Diagnosis·M A RusticoU Nicolini
Jan 18, 2006·American Journal of Medical Genetics. Part a·Liesbeth LewiJan Deprest
Mar 9, 2006·American Journal of Obstetrics and Gynecology·Liesbeth LewiJan Deprest
Apr 25, 2007·Prenatal Diagnosis·F J Fernández-MartínezE Barreiro

❮ Previous
Next ❯


Jul 9, 2013·European Journal of Medical Genetics·M EssaouiV Malan
Oct 18, 2019·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Agnieszka DziennikKrzysztof Rębała
Mar 19, 2019·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Céline HomatterCoralie Dumont

❮ 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.