PMID: 1364144Jan 1, 1992Paper

Monozygotic twins with discordant sex

Acta geneticae medicae et gemellologiae
K KurosawaY Kuroki


A nine-year-old girl with short stature was referred to the department of pediatrics at Kyushu University. The clinical diagnosis was Turner syndrome; karyotypic analysis performed on peripheral blood, using GTG techniques, demonstrated a 45,X/47,XYY (17:83) mosaicism. Her twin brother, a phenotypically normal male, had the same karyotype; 45,X/47,XYY (3:97) on peripheral blood. Their skin fibroblast karyotypes showed the same mosaicism, ie. 45,X/47,XYY (41:59 and 31:69 respectively). On eleven biochemical genetic markers the twin pair were concordant, thus the likelihood of monozygosity was 0.99527034. In addition, the analysis of variable number of tandem repeat (VNTR) markers revealed the likelihood of monozygosity to be 0.99944386. The most plausible explanation of the X/XYY mosaicism was nondisjunction of the Y in the first cleavage division of the 46,XY zygote. A disproportionate rate of cell populations with 45,X and 47,XYY in the twinning process of the X/XYY embryo, especially in the germ lines, would result in discordant sex in twin pairs.


Jun 1, 1977·Journal of Medical Genetics·M T MulcahyA Mackellar
Feb 1, 1976·Journal of Medical Genetics·R SchmidtF H Allen
Mar 1, 1975·Journal of Medical Genetics·L KarpP J Fialkow
Oct 1, 1991·American Journal of Medical Genetics·A AkaneY Nakagome
Nov 1, 1991·American Journal of Medical Genetics·A FujimotoK Battersby
Jun 1, 1966·Journal of Medical Genetics·J H EdwardsJ Kahn

❮ Previous
Next ❯


Jan 5, 2014·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·John St ClairRichard Lathe
Dec 4, 1995·American Journal of Medical Genetics·J E FoxA L Zaslav
Dec 13, 2000·Prenatal Diagnosis·O SchmidE Beinder
Nov 1, 1996·Clinical Genetics·H D SchwormT Meitinger
Apr 16, 2005·American Journal of Medical Genetics. Part a·Sylvie BourthoumieuFrançoise Esclaire
Jan 22, 1996·American Journal of Medical Genetics·G A Machin
Mar 4, 2011·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A ReussB Eiben
Mar 25, 2004·American Journal of Medical Genetics. Part a·T R RohrerH G Doerr
May 15, 2010·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Petra J G ZwijnenburgDorret I Boomsma

❮ 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.