Is the prevalence of Klinefelter syndrome increasing?

被引：150
作者：
Morris J.K. [1 ]
Alberman E. [1 ]
Scott C. [2 ]
Jacobs P. [3 ]
机构：
[1] Centre for Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, Barts and the London, Queen Mary's School of Medicine and Dentistry, London EC1M 6BQ, Charterhouse Square
[2] Chromosome Abnormality Database, Oxford Genetics Laboratories, Churchill Hospital
[3] Division of Human Genetics, University of Southampton Medical School, Salisbury District Hospital
来源：
European Journal of Human Genetics | 2008年 / 16卷 / 2期
基金：
英国惠康基金;
关键词：
Klinefelter syndrome; prevalence; sex chromosome trisomies;
D O I：
10.1038/sj.ejhg.5201956
中图分类号：
学科分类号：
摘要：
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 (∼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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页码：163 / 170
页数：7
相关论文
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