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The triple-X syndrome. Clinical, pathological, and chromosomal studies in three mentally retarded cases.

作者信息

JOHNSTON A W, FERGUSON-SMITH M A, HANDMAKER S D, JONES H W, JONES G S

出版信息

Br Med J. 1961 Oct 21;2(5259):1046-52. doi: 10.1136/bmj.2.5259.1046.

DOI:10.1136/bmj.2.5259.1046
PMID:14452136
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1970008/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d6c/1970008/32f3f9f7ad01/brmedj03020-0043-e.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d6c/1970008/3a3f7aded782/brmedj03020-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d6c/1970008/030bfc8a2df6/brmedj03020-0041-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d6c/1970008/c7c70edee60b/brmedj03020-0042-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d6c/1970008/5b85a0548561/brmedj03020-0043-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d6c/1970008/9f164341fd7f/brmedj03020-0043-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d6c/1970008/4fcf76b58c2b/brmedj03020-0043-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d6c/1970008/e89802ab6e47/brmedj03020-0043-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d6c/1970008/32f3f9f7ad01/brmedj03020-0043-e.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d6c/1970008/3a3f7aded782/brmedj03020-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d6c/1970008/030bfc8a2df6/brmedj03020-0041-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d6c/1970008/c7c70edee60b/brmedj03020-0042-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d6c/1970008/5b85a0548561/brmedj03020-0043-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d6c/1970008/9f164341fd7f/brmedj03020-0043-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d6c/1970008/4fcf76b58c2b/brmedj03020-0043-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d6c/1970008/e89802ab6e47/brmedj03020-0043-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d6c/1970008/32f3f9f7ad01/brmedj03020-0043-e.jpg

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1
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。
Br Med J. 1961 Oct 21;2(5259):1046-52. doi: 10.1136/bmj.2.5259.1046.
2
The XXX syndrome frequency among mental defectives and fertility.智力缺陷者中XXX综合征的发病率与生育能力
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3
A psychiatric investigation of triple-X chromosome females.对XXX染色体女性的精神病学调查。
Br J Psychiatry. 1963 Jan;109:90-4. doi: 10.1192/bjp.109.458.90.
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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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[Gonadal aplasia and triple-X syndrome].[性腺发育不全与三X综合征]
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Chromosomal aberrations in the mildly mentally retarded.轻度智力迟钝者的染色体畸变
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Mentally retarded schizoid twin girls with 47 chromosomes.患有47条染色体的智力发育迟缓的类精神分裂症双胞胎女孩。
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TWO APPARENTLY NORMAL TRIPLE-X FEMALES.
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引用本文的文献

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Epigenetic Mechanisms in DNA Double Strand Break Repair: A Clinical Review.DNA双链断裂修复中的表观遗传机制：临床综述
Front Mol Biosci. 2021 Jul 7;8:685440. doi: 10.3389/fmolb.2021.685440. eCollection 2021.
2
KARYOTYPE-PHENOTYPE CORRELATIONS IN GONADAL DYSGENESIS AND THEIR BEARING ON THE PATHOGENESIS OF MALFORMATIONS.性腺发育不全中的核型-表型相关性及其对畸形发病机制的影响
J Med Genet. 1965 Jun;2(2):142-55. doi: 10.1136/jmg.2.2.142.
3
[ON TRISOMY OF THE X-CHROMOSOME. (SO-CALLED TRIPLE X-SYNDROME OR SUPER FEMALE SYNDROME)].

本文引用的文献

1
Colorimetric determination of substances containing the grouping -CH(2).CO- in urine extracts as an indication of androgen content.比色法测定尿提取物中含-CH(2).CO-基团的物质以指示雄激素含量。
Biochem J. 1938 Aug;32(8):1312-31. doi: 10.1042/bj0321312.
2
Trisomy of a large chromosome. Association with mental retardation.一条大染色体三体。与智力迟钝相关。
JAMA. 1960 Sep 17;174:221-5. doi: 10.1001/jama.1960.03030030001001.
3
Abnormalities involving the X chromosome in women.女性中涉及X染色体的异常情况。
[关于X染色体三体。（所谓的XXX综合征或超雌综合征）]
Klin Wochenschr. 1963 Oct 15;41:996-1001. doi: 10.1007/BF01478861.
4
The XXXXY sex chromosome abnormality.XXXXY性染色体异常。
Can Med Assoc J. 1962 Oct 27;87(17):891-901.
5
Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height.性染色体畸变与身高：推导成年身高决定中的主要影响因素。
Hum Genet. 1993 Jul;91(6):551-62. doi: 10.1007/BF00205079.
6
Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.特纳综合征与女性性染色体畸变：推导临床特征发展中涉及的主要因素。
Hum Genet. 1995 Jun;95(6):607-29. doi: 10.1007/BF00209476.
7
A survey of sex chromatin abnormalities in mental hospitals.精神病院中性染色质异常情况的一项调查。
J Med Genet. 1968 Sep;5(3):165-72. doi: 10.1136/jmg.5.3.165.
8
Sex chromatin survey in mentally handicapped children in Mexico.墨西哥智障儿童的性染色质调查。
J Med Genet. 1968 Mar;5(1):40-4. doi: 10.1136/jmg.5.1.40.
9
The influence of inactive chromosomes on human development. Anomalous sex chromosome complements and the phenotype.失活染色体对人类发育的影响。异常性染色体组成与表型。
Humangenetik. 1973;17(2):105-36. doi: 10.1007/BF00277906.
10
Divergent phenotypes among 48,XXXX and 47,XXX females.48,XXXX和47,XXX女性中的不同表型。
Am J Hum Genet. 1970 May;22(3):326-35.
Lancet. 1960 Jun 4;1(7136):1213-6. doi: 10.1016/s0140-6736(60)91097-7.
4
Evidence for the existence of the human "super female".人类“超雌”存在的证据。
Lancet. 1959 Sep 26;2(7100):423-5. doi: 10.1016/s0140-6736(59)90415-5.
5
Klinefelter's syndrome: clinical and hormonal aspects.克兰费尔特综合征：临床与激素方面
Q J Med. 1959 Oct;28:561-71.
6
Nuclear sex and the sex chromosomes.核性别与性染色体
J Chronic Dis. 1960 Aug;12:203-10. doi: 10.1016/0021-9681(60)90099-0.
7
The chromosome complement in true hermaphroditism.
Lancet. 1960 Jul 16;2(7142):126-8. doi: 10.1016/s0140-6736(60)91267-8.
8
Primary amentia and micro-orchidism associated with an XXXY sex-chromosome constitution.原发性智力缺陷和小睾丸症与XXXY性染色体构成相关。
Lancet. 1960 Jul 23;2(7143):184-7. doi: 10.1016/s0140-6736(60)91329-5.
9
Trisomic condition of a large chromosome in a woman with mongoloid traits.一名具有蒙古人种特征的女性中一条大染色体的三体状态。
Lancet. 1960 Jul 16;2(7142):130-1. doi: 10.1016/s0140-6736(60)91270-8.
10
The XXX syndrome frequency among mental defectives and fertility.智力缺陷者中XXX综合征的发病率与生育能力
Lancet. 1960 Sep 17;2(7151):626-7. doi: 10.1016/s0140-6736(60)91696-2.