Klinefelter's syndrome historical perspective: Difference between revisions
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==Overview== | ==Overview== | ||
==Historical Perspective== | |||
The syndrome is named after Dr. Harry Klinefelter, an [[endocrinologist]] at [[Massachusetts General Hospital]] in Boston, MA, who first described it in 1942.<ref name="kline1942">{{Citation| last = Klinefelter | first = HF Jr | last2 = Reifenstein | first2 = EC Jr | last3 = Albright | title = Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone. | journal = J Clin Endocrinol Metab | volume = 2 | pages = 615–624 | date = 1942 | year = 1942 | pmid = ''too early to be indexed''}}. {{Citation| last = Klinefelter | first = HF | title = Klinefelter's syndrome: historical background and development. | journal = South Med J | volume = 79 | issue = 45| pages = 1089–1093 | date = 1986 | year =1986 | pmid = 3529433}} talks about the history of the development of the literature.</ref> | |||
The first published report of a man with a 47,XXY karyotype was by Patricia A. Jacobs and Dr. J.A. Strong at [[Western General Hospital]] in Edinburgh, Scotland in 1959.<ref name="nature1959">{{cite journal |author=Jacobs PA, Strong JA |month=January 31, |year=1959 |title=A case of human intersexuality having a possible XXY sex-determining mechanism |journal=[[Nature (journal)|Nature]] |volume=183 |issue=4657 |pages=302–3 |pmid=13632697 |doi= 10.1038/183302a0}}</ref> This karyotype was found in a 24-year-old man who had signs of Klinefelter's syndrome. Dr. Jacobs described her discovery of this first reported human or mammalian chromosome [[aneuploidy]] in her 1981 William Allan Memorial Award address.<ref name="amjhumgenet1982">{{cite journal |author=Jacobs PA |month=September |year=1982 |title=The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years |journal=[[American Journal of Human Genetics|Am J Hum Genet]] |volume=34 |issue=5 |pages=689–98 |pmid=6751075 |url=http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1685430&blobtype=pdf}}</ref> | The first published report of a man with a 47,XXY karyotype was by Patricia A. Jacobs and Dr. J.A. Strong at [[Western General Hospital]] in Edinburgh, Scotland in 1959.<ref name="nature1959">{{cite journal |author=Jacobs PA, Strong JA |month=January 31, |year=1959 |title=A case of human intersexuality having a possible XXY sex-determining mechanism |journal=[[Nature (journal)|Nature]] |volume=183 |issue=4657 |pages=302–3 |pmid=13632697 |doi= 10.1038/183302a0}}</ref> This karyotype was found in a 24-year-old man who had signs of Klinefelter's syndrome. Dr. Jacobs described her discovery of this first reported human or mammalian chromosome [[aneuploidy]] in her 1981 William Allan Memorial Award address.<ref name="amjhumgenet1982">{{cite journal |author=Jacobs PA |month=September |year=1982 |title=The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years |journal=[[American Journal of Human Genetics|Am J Hum Genet]] |volume=34 |issue=5 |pages=689–98 |pmid=6751075 |url=http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1685430&blobtype=pdf}}</ref> | ||
Latest revision as of 15:04, 15 August 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Historical Perspective
The syndrome is named after Dr. Harry Klinefelter, an endocrinologist at Massachusetts General Hospital in Boston, MA, who first described it in 1942.[1]
The first published report of a man with a 47,XXY karyotype was by Patricia A. Jacobs and Dr. J.A. Strong at Western General Hospital in Edinburgh, Scotland in 1959.[2] This karyotype was found in a 24-year-old man who had signs of Klinefelter's syndrome. Dr. Jacobs described her discovery of this first reported human or mammalian chromosome aneuploidy in her 1981 William Allan Memorial Award address.[3]
References
- ↑ Klinefelter, HF Jr; Reifenstein, EC Jr; Albright (1942), "Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone.", J Clin Endocrinol Metab, 2: 615–624, PMID too early to be indexed ''too early to be indexed'' Check
|pmid=value (help). Klinefelter, HF (1986), "Klinefelter's syndrome: historical background and development.", South Med J, 79 (45): 1089–1093, PMID 3529433 talks about the history of the development of the literature. - ↑ Jacobs PA, Strong JA (1959). "A case of human intersexuality having a possible XXY sex-determining mechanism". Nature. 183 (4657): 302–3. doi:10.1038/183302a0. PMID 13632697. Unknown parameter
|month=ignored (help) - ↑ Jacobs PA (1982). "The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years". Am J Hum Genet. 34 (5): 689–98. PMID 6751075. Unknown parameter
|month=ignored (help)