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As many as one in 500 men may carry an extra sex chromosome — either an X or a Y — but very few of them likely know about it, a new study suggests.
The research, published June 9 in the journal Genetics in Medicine(opens in new tab), included data from more than 207,000 men who provided information to the U.K. Biobank, a repository of genetic and health data from half a million U.K.-based participants. Typically, males carry one X- and one Y-shaped sex chromosome in each of their cells, but among the study participants, there were 213 men who carried an extra X chromosome and 143 that had an extra Y.
Very few of these men either reported being diagnosed with a chromosomal abnormality or had such an abnormality noted in their medical records: Of the XXY men, only 23% had a known diagnosis, and just 0.7% of the XYY men had a diagnosis. (The potential symptoms of having an extra Y chromosome can be very subtle, which may somewhat explain the difference in diagnosis rates, according to the Genetic and Rare Diseases Information Center(opens in new tab).)
"We were surprised at how common this is," Dr. Ken Ong, a pediatric endocrinologist in the Medical Research Council (MRC) Epidemiology Unit at the University of Cambridge and a co-senior author on the study, told The Guardian(opens in new tab). "It had been thought to be pretty rare."
www.livescience.com
The research, published June 9 in the journal Genetics in Medicine(opens in new tab), included data from more than 207,000 men who provided information to the U.K. Biobank, a repository of genetic and health data from half a million U.K.-based participants. Typically, males carry one X- and one Y-shaped sex chromosome in each of their cells, but among the study participants, there were 213 men who carried an extra X chromosome and 143 that had an extra Y.
Very few of these men either reported being diagnosed with a chromosomal abnormality or had such an abnormality noted in their medical records: Of the XXY men, only 23% had a known diagnosis, and just 0.7% of the XYY men had a diagnosis. (The potential symptoms of having an extra Y chromosome can be very subtle, which may somewhat explain the difference in diagnosis rates, according to the Genetic and Rare Diseases Information Center(opens in new tab).)
"We were surprised at how common this is," Dr. Ken Ong, a pediatric endocrinologist in the Medical Research Council (MRC) Epidemiology Unit at the University of Cambridge and a co-senior author on the study, told The Guardian(opens in new tab). "It had been thought to be pretty rare."
One in 500 men may carry an extra sex chromosome (most without knowing it)
The study included more than 200,000 men in the U.K.
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