Is the prevalence of Klinefelter syndrome increasing?
Is the prevalence of Klinefelter syndrome increasing?
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DOI：
10.1038/sj.ejhg.5201956
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发表时间：
2008-02-01
影响因子：
5.2
通讯作者：
Jacobs, Patricia
中科院分区：
文献类型：
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作者：
Morris, Joan K.;Alberman, Eva;Jacobs, Patricia
性染色体三体 (SCT)（即具有 XYY、XXY 或 XXX 性染色体构成的个体）的出生流行率传统上基于 20 世纪 60 年代和 1970 年代初对未经选择的新生儿进行的六次调查。所有三项 SCT 的同性出生率均为千分之一。我们根据新生儿调查、自然流产、围产期死亡和产前诊断的额外细胞遗传学研究重新审视了这些患病率。最近的新生儿调查表明，自最初的新生儿系列以来，XXY 的患病率有所增加，但其他两种 SCT 的患病率没有增加。 XXY 的患病率从每 1000 名男新生儿 1.09 例上升至 1.72 例（P = 0.023）。我们认为，在 XXX 患病率没有增加的情况下，这种增加不太可能是由于孕产妇年龄增加所致。由于 XXY 是唯一已知的染色体异常，其中很大一部分（大约 50%）是由于第一次父本减数分裂时不分离而产生的，因此我们推测某些因素可能干扰父本 MI 分裂时二价性别的配对和/或重组。
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.