Klinefeltern.
/ˈklʌɪnfɛltə/ Medicine.
a. Used in the possessive (less commonly attributively) to designate a syndrome which affects males and becomes evident at puberty or after, being characterized by small testes, eunuchoidism, gynæcomastia, and infertility, usually now restricted to those cases in which the cells have an extra X sex chromosome (most commonly in an XXY constitution, in contrast to the XY of normal males and the XX of normal females).The syndrome was described by Klinefelter (with others) in 1942.
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the world > health and disease > ill health > a disease > congenital or hereditary syndromes > [noun]
amyelia1865
amelia1872
congenital myotonia1886
myotonia congenita1887
Thomsen's disease1890
von Recklinghausen's disease1899
pseudoxanthoma1900
Werdnig–Hoffmann1903
myotonia atrophica1908
Fröhlich1909
Milroy's disease1909
Lindau disease1928
Steinert's disease1932
von Hippel–Lindau disease1932
Werner's syndrome1934
Sturge–Weber syndrome1935
gargoylism1936
Morgagni's syndrome1936
Hurler's disease1937
von Willebrand1941
Turner1942
autism1944
hypophosphatasia1948
Klinefelter1950
mucopolysaccharidosis1952
progeria1957
Pendred1960
Down's syndrome1961
Patau's syndrome1961
Marinesco–Sjögren syndrome1962
cri du chat syndrome1964
Prader–Willi syndrome1964
Noonan syndrome1965
Lesch-Nyhan syndrome1966
Wernicke–Korsakoff1966
Down1967
mannosidosis1969
mucolipidosis1970
Asperger's syndrome1971
Angelman syndrome1972
adrenoleukodystrophy1973
SCID1973
severe combined immune deficiency1973
Miller–Dieker syndrome1980
Asperger1988
Asperger's disorder1994
1946 Med. Jrnl. Austral. 28 Sept. 446/1 (heading) The Klinefelter–Reifenstein–Albright syndrome.]
1950 Jrnl. Clin. Endocrinol. & Metabolism 10 630 (heading) Dystrophia myotonica, with special reference to endocrine function (Klinefelter's syndrome).
1950 Jrnl. Clin. Endocrinol. & Metabolism 10 635 In the 2 male patients the diagnostic criteria for the so-called Klinefelter syndrome were satisfied.
1958 H. J. Roberts Difficult Diagn. i. i. 37 The evolution of the belief that micro-orchidism with gynecomastia (the Klinefelter syndrome) probably represents a genetic defect in the sex chromosomes.
1964 L. C. Martin Clin. Endocrinol. (ed. 4) vi. 209 Apart from these two main XXY and XY types, Klinefelter's syndrome has also been described in variants possessing the chromosomal constitutions of XXXY, XXXXY, and XXYY.
1969 Nature 16 Aug. 680/2 Züblin and Pasqualini noted a childishness, shyness, lack of drive and a degree of intellectual impairment in patients with Klinefelter's syndrome.
1970 R. Passmore & J. S. Robson Compan. Med. Stud. II. xxxi. 15/2 The most important findings were that abnormal females with Turner's syndrome were sex chromatin negative like normal males, and that abnormal males with Klinefelter's syndrome were sex chromatin positive like normal females.
1971 Daily Tel. 10 Dec. (Colour Suppl.) 20/1 One of the most common physical intersex conditions affecting a minimum of 2·65 males out of every 1,000 is the Klinefelter syndrome.
b. elliptical.
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1961 Davidson & Robertson Smith Proc. Conf. Human Chromosomal Abnormalities ii. 23 In 5 of the Klinefelter cases our observations were consistent with the belief that the chromosome number was regularly 47.
1967 M. Bartalos & T. A. Baramki Med. Cytogenetics x. 155 In Hornstein's experience, only a few of the Klinefelter patients were free from some form of psychopathological traits.
1971 Daily Tel. 10 Dec. (Colour Suppl.) 20/1 In Klinefelter there is an extra X chromosome added to the male XY.
This entry has not yet been fully updated (first published 1976; most recently modified version published online September 2021).
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n.1950