Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10 000 sperm donor karyotypes
Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10 000 sperm donor karyotypes
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DOI：
10.1093/humrep/del024
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发表时间：
2006-06-01
影响因子：
6.1
通讯作者：
Siffroi, Jean Pierre
中科院分区：
文献类型：
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作者：
Ravel, C.;Berthaut, I.;Siffroi, Jean Pierre
背景技术背景：供精者是评价表型正常和有生育能力的成年男性染色体异常频率的合适人群。方法：在法国CECOS（Centre d'Etude et de Conservation des ufs et du Sperme）进行了一项大型多中心回顾性研究，收集了25年内精子捐献者的细胞遗传学、生物学和家族学数据。结果：共记录到10202例染色体核型。38例核型异常（0.37%），包括21例染色体平衡重排（0.2%）。这些结果与大多数在新生儿中进行的大规模研究中获得的结果一致。已知所有携带异常核型的男性的精液参数，并显示正常的精子计数，这表明这些类型的染色体畸变对精子发生没有影响或影响很小。现有的家族数据未显示任何特定的畸形、智力迟钝或胎儿丢失史。结论：这项研究是第一次在正常和生育男性中进行的大规模细胞遗传学研究，并表明与出生时发现的染色体畸变相比，染色体畸变的频率不受先前正常生育能力或平静家族史的影响。
BACKGROUND: Sperm donors represent an appropriate population for evaluating the frequency of chromosomal abnormalities in phenotypically normal and fertile adult males. METHODS: A large multicentric retrospective study was made within the French CECOS (Centre d'Etude et de Conservation des ufs et du Sperme) for collecting cytogenetic, biological and familial data in sperm donors over a 25-year period. RESULTS: As a whole, 10202 karyotypes have been recorded. Thirty-eight karyotype aberrations (0.37%) have been diagnosed including 21 balanced chromosomal rearrangements (0.2%). These results are in agreement with those obtained in most large-scale studies performed in unselected newborns. Semen parameters were known for all men carrying an abnormal karyotype and showed normal sperm counts, suggesting that these types of chromosomal aberrations have no or poor consequences on spermatogenesis. Available familial data did not reveal any particular history of malformations, mental retardation or fetal losses. CONCLUSION: This study is the first large-scale cytogenetic study made in normal and fertile males and shows that the frequency of chromosomal aberrations is not influenced by a previous normal fertility or by an uneventful familial history when compared to that found at birth.