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Is the prevalence of Klinefelter syndrome increasing?

Is the prevalence of Klinefelter syndrome increasing?
Is the prevalence of Klinefelter syndrome increasing?
The birth prevalence of sex chromosome trisomies (SCT), that is individuals with an XYY, XXY or XXX sex chromosome constitution, is traditionally based on six surveys of unselected newborns carried out in the 1960s and early 1970s. All three SCTs had a prevalence of 1 in 1000 same sex births. We re-examined these prevalences based on additional cytogenetic studies of newborn surveys, spontaneous abortions, perinatal deaths and prenatal diagnoses. The more recent newborn surveys suggest there has been an increase in the prevalence of XXYs, but not of the other two SCTs since the original newborn series. The prevalence of XXYs has risen from 1.09 to 1.72 per 1000 male births (P = 0.023). We suggest that such an increase, in the absence of an increase in the prevalence of XXX, is unlikely to be due to increased maternal age. As XXY is the only chromosome abnormality known where a substantial proportion (similar to 50%) arise as the result of non-disjunction at the first paternal meiotic division, we speculate that some factor may be interfering with pairing and/or recombination of the sex bivalent at the paternal MI division.
sex chromosome trisomies, maternal age, England, 1st trimester, prevalence, male, abortion, cytogenetic survey, publishing, sex, chorionic villi, semen quality, spontaneous-abortions, klinefelter syndrome, london, perinatal period, human, chromosome-abnormalities, trisomy, birth, x-chromosome, time, newborn children, infants, abnormalities, syndrome
1018-4813
163-170
Morris, Joan K.
166e8a8b-5205-4819-b52b-96edfda3e68b
Alberman, Eva
e730c5e9-186a-4d91-b0f9-a702593fd312
Scott, Claire
d0e9a67c-186f-437f-a4d2-70f04a547aa7
Jacobs, Patricia
4d418459-1dd4-432f-9183-a3077ca3caba
Morris, Joan K.
166e8a8b-5205-4819-b52b-96edfda3e68b
Alberman, Eva
e730c5e9-186a-4d91-b0f9-a702593fd312
Scott, Claire
d0e9a67c-186f-437f-a4d2-70f04a547aa7
Jacobs, Patricia
4d418459-1dd4-432f-9183-a3077ca3caba

Morris, Joan K., Alberman, Eva, Scott, Claire and Jacobs, Patricia (2008) Is the prevalence of Klinefelter syndrome increasing? European Journal of Human Genetics, 16 (2), 163-170. (doi:10.1038/sj.ejhg.5201956).

Record type: Article

Abstract

The birth prevalence of sex chromosome trisomies (SCT), that is individuals with an XYY, XXY or XXX sex chromosome constitution, is traditionally based on six surveys of unselected newborns carried out in the 1960s and early 1970s. All three SCTs had a prevalence of 1 in 1000 same sex births. We re-examined these prevalences based on additional cytogenetic studies of newborn surveys, spontaneous abortions, perinatal deaths and prenatal diagnoses. The more recent newborn surveys suggest there has been an increase in the prevalence of XXYs, but not of the other two SCTs since the original newborn series. The prevalence of XXYs has risen from 1.09 to 1.72 per 1000 male births (P = 0.023). We suggest that such an increase, in the absence of an increase in the prevalence of XXX, is unlikely to be due to increased maternal age. As XXY is the only chromosome abnormality known where a substantial proportion (similar to 50%) arise as the result of non-disjunction at the first paternal meiotic division, we speculate that some factor may be interfering with pairing and/or recombination of the sex bivalent at the paternal MI division.

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More information

Published date: 2008
Keywords: sex chromosome trisomies, maternal age, England, 1st trimester, prevalence, male, abortion, cytogenetic survey, publishing, sex, chorionic villi, semen quality, spontaneous-abortions, klinefelter syndrome, london, perinatal period, human, chromosome-abnormalities, trisomy, birth, x-chromosome, time, newborn children, infants, abnormalities, syndrome

Identifiers

Local EPrints ID: 60073
URI: http://eprints.soton.ac.uk/id/eprint/60073
ISSN: 1018-4813
PURE UUID: 51aca8b8-1713-4787-85f8-5b53b2f02663

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Date deposited: 08 Sep 2008
Last modified: 15 Mar 2024 11:18

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Contributors

Author: Joan K. Morris
Author: Eva Alberman
Author: Claire Scott
Author: Patricia Jacobs

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