An Unusual Sex Chromatin Pattern in Three Mentally Deficient Subjects

Barr, Murray L.; Shaver, Evelyn L.; Carr, David; Plunkett, Earl R.

doi:10.1111/j.1365-2788.1959.tb00921.x

Cited by 22 publications

(14 citation statements)

References 20 publications

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“…3 Timeline of some important discoveries in X-chromosome inactivation. a Muller (1932), b Klinefelter et al (1942), c Barr and Bertram (1949), d Barr et al (1959), e Jacobs et al (1959), f Ford et al (1959), g Lyon (1961), h Russell (1963), i Davidson et al (1963), j Cattanach and Issacson (1967), k Riggs (1975), l Shapiro et al (1979), m Gartler and Riggs (1983), n Brown et al (1991a), o Brown et al (1991b), p Jeppesen and Turner (1993), q Lyon (1998), r Lee et al (1999), s Bacher et al (2006) and Xu et al (2006) Term "dosage compensation" coined a …”

Section: Human Model Systems: Tools For Future Studiesmentioning

confidence: 99%

X-chromosome inactivation: molecular mechanisms from the human perspective

et al. 2011

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X-chromosome inactivation is an epigenetic process whereby one X chromosome is silenced in mammalian female cells. Since it was first proposed by Lyon in 1961, mouse models have been valuable tools to uncover the molecular mechanisms underlying X inactivation. However, there are also inherent differences between mouse and human X inactivation, ranging from sequence content of the X inactivation center to the phenotypic outcomes of X-chromosome abnormalities. X-linked gene dosage in males, females, and individuals with X aneuploidies and X/autosome translocations has demonstrated that many human genes escape X inactivation, implicating cis-regulatory elements in the spread of silencing. We discuss the potential nature of these elements and also review the elements in the X inactivation center involved in the early events in X-chromosome inactivation.

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Section: Human Model Systems: Tools For Future Studiesmentioning

confidence: 99%

X-chromosome inactivation: molecular mechanisms from the human perspective

et al. 2011

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“…11 The diagnosis of KS should be considered in men with complaints related to hypogonadism, ie, fatigue, weakness, gynecomastia, infertility, erectile dysfunction, and osteoporosis. 20,63,67,68 A hormonal evaluation should be performed to distinguish KS, a disorder of primary testicular failure, from one of secondary hypogonadism or a pituitary process. 20 The presence of small testes and low serum testosterone levels with elevated FSH and LH levels is usually sufficient to make the diagnosis.…”

Section: Screeningmentioning

confidence: 99%

Klinefelter Syndrome

Smyth¹,

Bremner²

1998

Arch Intern Med

245

171

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Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair, tallness, and infertility, whereas others, because of the wide variability in clinical expression, lack many of these features. Treatment consists of testosterone replacement therapy to correct the androgen deficiency and to provide patients with appropriate virilization. This therapy also has positive effects on mood and self-esteem and has been shown to protect against osteoporosis, although it will not reverse infertility. Although the diagnosis of Klinefelter syndrome is now made definitively using chromosomal karyotyping, revealing in most instances a 47,XXY genotype, the diagnosis also can be made using a careful history and results of a physical examination, with the hallmark being small, firm testes. As it affects 1 in 500 male patients and presents with a variety of clinical features, primary care physicians should be familiar with this condition.

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“…For example, there are four surveys in which the patients may be distinguished as having IQ's of <50 or of 50 or more (Barr and Carr, 1962;Barr et al, 1959Barr et al, , 1960Mosier, Scott, and Cotter, 1960;Breg et al, 1963;Hambert, 1966). Twentyone of 3288 males with IQ's of <50 had an abnormal nuclear sex or 6-4 per 1000, while 32 of 1822 with IQ's of 50 or more were abnormal, a frequency of 17-6 per 1000.…”

Section: Second Phasementioning

confidence: 99%