* Different clinical presentation of Klinefelter's syndrome in monozygotic twins.
- There is a wide variability in the clinical presentation of Klinefelter's syndrome. We report the case of a 45-year-old man who was incidentally diagnosed a 47,XXY/46,XY karyotype in a bone marrow aspiration (case 1). He presented hypogonadic features with undetectable testosterone levels and a height in accordance with mid-parental height. He had a monozygous sibling (case 2) who did not show clinical signs of hypogonadism and whose height exceeded mid-parental height. Both patients had presented language disorders since childhood. The karyotype of lymphocytes in peripheral blood of both subjects was compatible with mosaic Klinefelter's syndrome (46,XY/47,XXY). Testosterone replacement was initiated in case 1. Lack of testicular involvement due to mosaicism and the overexpression of the SHOX gene in case 2 could explain the marked differences in phenotype in these homozygous twins.
=>教える, 見せること, 展覧会, 見世物, 外観, を見せる, を案内する, を明らかにする, 見える
Overview of noun show
The noun show has 4 senses (first 2 from tagged texts)
1. (18) show -- (the act of publicly exhibiting or entertaining; "a remarkable show of skill")
2. (9) display, show -- (something intended to communicate a particular impression; "made a display
of strength"; "a show of impatience"; "a good show of looking interested")
3. show -- (a social event involving a public performance or entertainment; "they wanted to see some
of the shows on Broadway")
4. appearance, show -- (pretending that something is the case in order to make a good impression;
"they try to keep up appearances"; "that ceremony is just for show")
Overview of verb show
The verb show has 12 senses (first 11 from tagged texts)
1. (136) show, demo, exhibit, present, demonstrate -- (give an exhibition of to an interested
audience; "She shows her dogs frequently"; "We will demo the new software in Washington")
2. (63) prove, demonstrate, establish, show, shew -- (establish the validity of something, as by an
example, explanation or experiment; "The experiment demonstrated the instability of the compound";
"The mathematician showed the validity of the conjecture")
3. (57) testify, bear witness, prove, evidence, show -- (provide evidence for; "The blood test
showed that he was the father"; "Her behavior testified to her incompetence")
4. (43) show -- (make visible or noticeable; "She showed her talent for cooking"; "Show me your
etchings, please")
5. (32) picture, depict, render, show -- (show in, or as in, a picture; "This scene depicts country
life"; "the face of the child is rendered with much tenderness in this painting")
6. (24) express, show, evince -- (give expression to; "She showed her disappointment")
7. (24) indicate, point, designate, show -- (indicate a place, direction, person, or thing; either
spatially or figuratively; "I showed the customer the glove section"; "He pointed to the empty
parking space"; "he indicated his opponents")
8. (11) show, show up -- (be or become visible or noticeable; "His good upbringing really shows";
"The dirty side will show")
9. (7) read, register, show, record -- (indicate a certain reading; of gauges and instruments; "The
thermometer showed thirteen degrees below zero"; "The gauge read `empty'")
10. (6) show -- (give evidence of, as of records; "The diary shows his distress that evening")
11. (2) usher, show -- (take (someone) to their seats, as in theaters or auditoriums; "The usher
showed us to our seats")
12. show -- (finish third or better in a horse or dog race; "he bet $2 on number six to show")
--- WordNet end ---