| D007713 |
Klinefelter Syndrome |
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.). |
48,XXYY Syndrome,49,XXXXY Syndrome,Klinefelter Syndrome, Variants,Klinefelter's Syndrome,XXXY Males,XXY Syndrome,XXY Trisomy,Xxyy Syndrome,Klinefelter Syndromes,Klinefelter Syndromes, Variants,Klinefelters Syndrome,Syndrome, Klinefelter,Syndrome, Klinefelter's,Syndrome, Variants Klinefelter,Syndrome, XXY,Syndrome, Xxyy,Syndromes, Klinefelter,Syndromes, Variants Klinefelter,Syndromes, XXY,Syndromes, Xxyy,Trisomies, XXY,Trisomy, XXY,XXXY Male,XXY Syndromes,XXY Trisomies,Xxyy Syndromes |
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| D007962 |
Leukocytes |
White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES). |
Blood Cells, White,Blood Corpuscles, White,White Blood Cells,White Blood Corpuscles,Blood Cell, White,Blood Corpuscle, White,Corpuscle, White Blood,Corpuscles, White Blood,Leukocyte,White Blood Cell,White Blood Corpuscle |
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| D008297 |
Male |
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Males |
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| D009030 |
Mosaicism |
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote. |
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| D002869 |
Chromosome Aberrations |
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. |
Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality |
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| D005826 |
Genetics, Medical |
A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents. |
Medical Genetics |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000328 |
Adult |
A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. |
Adults |
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| D001345 |
Autoradiography |
The making of a radiograph of an object or tissue by recording on a photographic plate the radiation emitted by radioactive material within the object. (Dorland, 27th ed) |
Radioautography |
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| D025063 |
Chromosome Disorders |
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) |
Autosomal Chromosome Disorders,Chromosome Abnormality Disorders,Chromosomal Disorders,Autosomal Chromosome Disorder,Chromosomal Disorder,Chromosome Abnormality Disorder,Chromosome Disorder,Chromosome Disorder, Autosomal,Chromosome Disorders, Autosomal,Disorder, Chromosomal,Disorder, Chromosome,Disorder, Chromosome Abnormality,Disorders, Chromosomal,Disorders, Chromosome |
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