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47,XXX和45,X患者的生育能力。

Fertility in 47,XXX and 45,X patients.

作者信息

Dewhurst J

出版信息

J Med Genet. 1978 Apr;15(2):132-5. doi: 10.1136/jmg.15.2.132.

Abstract

Female patients with a sex chromosome abnormality may be fertile. In patients with a 47,XXX cell line there appears to be an increased risk of a cytogenetically abnormal child but the extent of this risk cannot yet be determined; it is probably lower in the non-mosaic 47,XXX patient than the mosaic 46,XX/47,XXX one. Patients with a 45,X cell line rarly become pregnant, and when they do they appear to have a high risk of an abnormal child or repeated unsuccessfuly pregnancies; this risk is certainly exaggerated by the method of reporting; when the poor reproductive perforamcne is first identified leading to the recognition of the maternal cytogenetic fault, the reproductive failure rate is naturally high; when the maternal fault is first identified and the reproductive history then established far better results are evident.

摘要

患有性染色体异常的女性患者可能具有生育能力。在具有47,XXX细胞系的患者中,生育出细胞遗传学异常孩子的风险似乎有所增加,但这种风险的程度尚未确定;非嵌合型47,XXX患者的这种风险可能低于嵌合型46,XX/47,XXX患者。具有45,X细胞系的患者很少怀孕,而一旦怀孕,她们生育异常孩子或反复妊娠失败的风险似乎很高;这种风险肯定因报告方式而被夸大了;当首次发现生殖性能差并由此认识到母亲的细胞遗传学缺陷时,生殖失败率自然很高;当首先发现母亲的缺陷并随后确定生殖史时,结果会明显好得多。

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