PMID: 1364144Jan 1, 1992Paper

Monozygotic twins with discordant sex

Acta geneticae medicae et gemellologiae
K KurosawaY Kuroki

Abstract

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.

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Citations

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

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