Format

Send to

Choose Destination
See comment in PubMed Commons below
Hum Reprod. 2002 Mar;17(3):576-83.

Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndrome.

Author information

1
School of Public Health, University of California, Berkeley, CA 94720, USA. eskenazi@uclink4.berkeley.edu

Abstract

BACKGROUND:

It is unclear whether frequency of sperm aneuploidy is associated with risk of fathering children with trisomy.

METHODS:

We recruited 36 families with a boy with Klinefelter syndrome (KS), interviewed the fathers about their exposures and medical history, received a semen sample from each father, and collected blood samples from the mother, father and child. We applied a multicolour fluorescent in-situ hybridization assay to compare the frequencies of sperm carrying XY aneuploidy and disomies X, Y and 21 in fathers of maternally and paternally inherited KS cases.

RESULTS:

Inheritance of the extra X chromosome was paternal in 10 and maternal in 26 families. Fathers of paternal KS cases produced higher frequencies of XY sperm (P = 0.02) than fathers of maternal KS cases. After controlling for age, the major confounding variable, the difference between the two groups was no longer significant (P less-than-or-equal 0.2). Also, there were no significant differences between the parental origin groups for disomy X, Y or 21.

CONCLUSIONS:

Men who fathered a child with a Klinefelter syndrome produced higher frequencies of XY sperm aneuploidy, which is explained, in part, by both paternal age and parent of origin.

PMID:
11870106
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center