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Antenatally Detected Klinefelter's Syndrome in Twins

Published online by Cambridge University Press:  01 August 2014

D.B. Flannery ,
J.A. Brown ,
F.O. Redwine ,
P. Winter  and
W.E. Nance
D.B. Flannery*
Affiliation:
Department of Human Genetics, Richmond Department of Pediatrics, Children's Medical Center, Richmond
J.A. Brown
Affiliation:
Department of Human Genetics, Richmond Department of Obstetrics and Gynecology, Medical College of Virginia, Richmond
F.O. Redwine
Affiliation:
Department of Human Genetics, Richmond Department of Obstetrics and Gynecology, Medical College of Virginia, Richmond
P. Winter
Affiliation:
Department of Human Genetics, Richmond
W.E. Nance
Affiliation:
Department of Human Genetics, Richmond Department of Pediatrics, Children's Medical Center, Richmond
*
Department of Human Genetics, Box 33, MCV Station, Richmond, VA 23298, USA

Abstract

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An increased incidence of twinning has been reported among patients with Klinefelter's syndrome (XXY) and their relatives, but no data have been reported about the incidence of XXY among twins. Results from our institution's antenatal testing clinic provide data about twins and XXY. In 1842 pregnancies tested, 21 were noted to be twin gestations. Five fetuses with XXY were detected in all pregnancies, of which there was a pair of MZ twins concordant for XXY and a pair of DZ twins discordant for XXY. The incidence of XXY in twins was thus 7,1%. The fetal phenotype of XXY was examined in aborted MZ twins and found to be mild. Notably, the testicular histology was normal. These cases confirm the previously reported association of twinning and XXY. The association of twinning and XXY implies a commonality of causation; however, a maternal age effect cannot be excluded. Our data suggest that there is an increased risk of XXY among twins.

Keywords

Klinefelter's syndromeTwinsAntenatal testingChromosome abnormalitiesTesticular development
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 33 , Issue 1 , January 1984 , pp. 51 - 56
Copyright
Copyright © The International Society for Twin Studies 1984

References

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