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DeCS
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Descriptor English:
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Klinefelter Syndrome
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Descriptor Spanish:
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Síndrome de Klinefelter
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Descriptor Portuguese:
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Síndrome de Klinefelter
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Tree Number:
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C12.706.842.454
C16.131.260.800.490
C16.131.939.842.454
C16.320.180.800.490
C19.391.482.629
C19.391.775.454
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Definition English:
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A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.). |
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Indexing Annotation English:
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index here karyotypes XXXY, XXXXY, XXYY, XXXYY, XX/XXY, XX/YY, XY/XXY, XXY/XXXY, XXY/XXYY, XY/XXY/XXXY if called KLINEFELTER SYNDROME by author but if not so named by author, index under SEX CHROMOSOME DISORDERS
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Allowable Qualifiers English:
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Record Number:
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7889
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Unique Identifier:
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D007713
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Occurrence in VHL:
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Similar:
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DeCS SciELO LILACS LIS
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