Anagram & Information om | Engelska ordet KLINEFELTER
KLINEFELTER
Antal bokstäver
11
Är palindrom
Nej
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Exempel på hur man kan använda KLINEFELTER i en mening
- Some reports indicate that she already had rudimentary ovaries in her abdomen and may have had Klinefelter syndrome.
- Examples of conditions with such an association are fetal alcohol syndrome and the genetic chromosomal abnormalities, such as Down syndrome (chromosome 21), cri du chat syndrome (chromosome 5), Klinefelter syndrome, Wolf–Hirschhorn syndrome, Noonan syndrome (chromosome 12), Patau syndrome (chromosome 13), IDIC 15/Dup15q (chromosome 15), Edward's syndrome (chromosome 18), and Aarskog–Scott syndrome (X-linked recessive), or autosomal recessive disorder, such as leukocyte adhesion deficiency-2 (LAD2).
- The Albright people of Ohio included these seven: Adam Hennig and Frederick Schauer (first preachers of the Evangelical Church to Ohio), John Dreisbach, John Erb, Henry Niebel, John Klinefelter, and Jacob Klinefelter.
- Male calicoes can happen when a male cat has two X chromosomes (Klinefelter syndrome, with XXY sex chromosomes and generally they are sterile); the condition is a chimera, with two different cell types.
- This includes patients with Turner Syndrome (45,X or 45,X0) and Klinefelter Syndrome (47,XXY) even though they do not generally present with atypical genitals.
- Congenital disorders such as Down syndrome, fetal alcohol syndrome, cri du chat syndrome, Klinefelter syndrome, Turner syndrome, Ehlers–Danlos syndrome, Waardenburg syndrome often present with prominent epicanthal folds, and if these folds are nasal (as they most commonly are) they will cause telecanthus.
- The most prevalent genetic conditions include Down syndrome, Klinefelter syndrome, Fragile X syndrome (common among boys), neurofibromatosis, congenital hypothyroidism, Williams syndrome, phenylketonuria (PKU), and Prader–Willi syndrome.
- Of the abnormal conditions associated with micropenis, most are conditions of reduced prenatal androgen production or effect, such as abnormal testicular development (testicular dysgenesis), Klinefelter syndrome, Leydig cell hypoplasia, specific defects of testosterone or dihydrotestosterone synthesis (17,20-lyase deficiency, 5α-reductase deficiency), androgen insensitivity syndromes, inadequate pituitary stimulation (gonadotropin deficiency), and other forms of congenital hypogonadism.
- Furthermore, Klinefelter syndrome can be diagnosed as a coincidental prenatal finding in the context of invasive prenatal diagnosis (amniocentesis, chorionic villus sampling).
- Klinefelter 47,XXY and 48,XXYY patients were found to have significantly skewed X-chromosome levels in 31% of the patients examined, with researchers predicting that this skewing might be responsible for the mental deficiencies and abnormalities present.
- Very rarely (approximately 1 in 3,000) a male tortoiseshell or calico is born; these typically have an extra X chromosome (XXY), a condition known in humans as Klinefelter syndrome, and their cells undergo an X-inactivation process like in females.
- Klinefelter worked at the Massachusetts General Hospital in Boston from 1941 to 1942; under the supervision of Fuller Albright he described a group of nine men with "gynecomastia, aspermatogenesis without aleydigism, and increased excretion of follicle-stimulating hormone", the first description of what would be called the Klinefelter syndrome.
- Crespi and Badcock make a number of claims about genetic disorders and their relationship to the hypothesis; for instance, that the relationship between those disorders and sex chromosome aneuploidy supports the hypothesis, with trisomy X and Klinefelter syndrome (extra X chromosomes) increasing schizophrenia risk and Turner syndrome (one X chromosome) increasing autism risk.
- This includes sex chromosome DSDs such as Klinefelter syndrome, Turner syndrome and 45,X or 46,XY gonadal dysgenesis.
- Since 2014, noninvasive testing has identified aneuploidies in chromosomes 13, 16, 18, 21, 22, X and Y, including Down syndrome (caused by trisomy 21), Edwards syndrome (caused by trisomy 18), Patau syndrome (caused by trisomy 13), as well as sex chromosome aneuploidies, such as Turner syndrome (45, X) and Klinefelter syndrome (47, XXY).
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