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XXX女性的产前诊断。遗传咨询中的一个难题。

Antenatal diagnosis of an XXX female. A dilemma for genetic counseling.

作者信息

Krone L R, Prichard L L, Bradshaw C L, Jones O W, Peterson R M, Dixson B K

出版信息

West J Med. 1975 Jul;123(1):17-21.

PMID:1154778
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1130334/
Abstract

This report describes the first antenatal diagnosis of an XXX female. Over 150 postnatal cases of XXX females have been described. There is no specific phenotype associated with the sex chromosome abnormality and most such persons are fertile. The frequency of XXX females in mental institutions is 3.9 per 1,000 female subjects whereas the frequency in consecutive newborn infants is 1.1 per 1,000 newborns. Chi-square analysis shows this difference cannot be due to chance. On the other hand, data from consecutive newborn studies suggest that intellectual development in XXX newborns is within normal range. Available evidence favors normal development in XXX female infants although the risk for developmental disabilities may be higher for the XXX than for the XX infant.

摘要

本报告描述了首例产前诊断出的XXX女性。已报道了150多例产后XXX女性病例。与性染色体异常相关的并无特定表型,且大多数此类个体具有生育能力。在精神病院中,XXX女性的出现频率为每1000名女性受试者中有3.9例,而在连续出生的新生儿中,这一频率为每1000名新生儿中有1.1例。卡方分析表明,这种差异并非偶然。另一方面,连续新生儿研究的数据表明,XXX新生儿的智力发育在正常范围内。现有证据支持XXX女婴正常发育,尽管XXX婴儿比XX婴儿出现发育障碍的风险可能更高。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dffe/1130334/976325b81f5b/westjmed00287-0046-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dffe/1130334/976325b81f5b/westjmed00287-0046-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dffe/1130334/976325b81f5b/westjmed00287-0046-a.jpg

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本文引用的文献

1
A survey of sex-chromosome abnormalities among 4514 mental defectives.对4514名智力缺陷者的性染色体异常情况进行的一项调查。
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The triple-X syndrome. Clinical, pathological, and chromosomal studies in three mentally retarded cases.三体X综合征。三例智力发育迟缓病例的临床、病理及染色体研究。
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Abnormalities involving the X chromosome in women.女性中涉及X染色体的异常情况。
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Evidence for the existence of the human "super female".人类“超雌”存在的证据。
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SEX CHROMOSOME ABNORMALITIES IN A POPULATION OF 1,662 MENTAL DEFECTIVES.1662名智力缺陷者群体中的性染色体异常情况。
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CLINICAL AND CYTOGENETIC STUDIES ON A GROUP OF FEMALES WITH XXX SEX CHROMOSOME COMPLEMENTS.一组具有XXX性染色体组成的女性的临床和细胞遗传学研究。
J Pediatr. 1964 Jan;64:24-33. doi: 10.1016/s0022-3476(64)80313-9.
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[ON TRISOMY OF THE X-CHROMOSOME. (SO-CALLED TRIPLE X-SYNDROME OR SUPER FEMALE SYNDROME)].[关于X染色体三体。(所谓的XXX综合征或超雌综合征)]
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XXX 18-TRISOMY.
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