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Monozygotic Twins with Discordant Sex

Published online by Cambridge University Press:  01 August 2014

K. Kurosawa ,
R. Kuromaru ,
K. Imaizumi ,
Y. Nakamura ,
F. Ishikawa ,
K. Ueda  and
Y. Kuroki
K. Kurosawa*
Affiliation:
Division of Medical Genetics, Kanagawa Children's Medical Center
R. Kuromaru
Affiliation:
Department of Pediatrics, Faculty of Medicine, Kyushu University
K. Imaizumi
Affiliation:
Division of Medical Genetics, Kanagawa Children's Medical Center
Y. Nakamura
Affiliation:
Department of Biochemistry, Cancer Institute
F. Ishikawa
Affiliation:
Kanagawa Police Headquarters, Japan
K. Ueda
Affiliation:
Department of Pediatrics, Faculty of Medicine, Kyushu University
Y. Kuroki
Affiliation:
Division of Medical Genetics, Kanagawa Children's Medical Center
*
Kanagawa Children's Medical Centre, Mutsukawa 2-138-4, Minamiku Yokohama 232, Japan

Abstract

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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.

Keywords

Monozygotic twinsDiscordant sexVariable number of tandem repeat (VNTR) markersNondisjunction
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 41 , Issue 4 , October 1992 , pp. 301 - 310
Copyright
Copyright © The International Society for Twin Studies 1992

References

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