Klinefelter syndrome, male with more than two X chromosomes (Q46921): Difference between revisions
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Doença que afeta homens, causada pela presença de mais de dois cromossomos X em cada célula. Esta doença é caracterizada por comprometimento do desenvolvimento sexual, incapacidade intelectual, características faciais distintas, anormalidades esqueléticas, má coordenação e graves problemas com a fala. Esta doença pode ser diferenciada da síndrome de Klinefelter clássica pela gravidade aumentada dos sintomas. A confirmação é feita por meio da observação de mais de dois cromossomos X por cariotipagem. | |||
| description / en | description / en | ||
A disease affecting males, caused by the presence of more than two X chromosomes in each cell. This disease is characterised by impaired sexual development, intellectual disability, distinctive facial features, skeletal abnormalities, poor coordination, and severe problems with speech. This disease may be differentiated from classic Klinefelter syndrome by increased severity of symptoms. Confirmation is through observation of more than two X chromosomes by karyotyping. | |||
Revision as of 15:49, 13 August 2026
A disease affecting males, caused by the presence of more than two X chromosomes in each cell. This disease is characterised by impaired sexual development, intellectual disability, distinctive facial features, skeletal abnormalities, poor coordination, and severe problems with speech. This disease may be differentiated from classic Klinefelter syndrome by increased severity of symptoms. Confirmation is through observation of more than two X chromosomes by karyotyping.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD50.31 |
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| English | Klinefelter syndrome, male with more than two X chromosomes |
A disease affecting males, caused by the presence of more than two X chromosomes in each cell. This disease is characterised by impaired sexual development, intellectual disability, distinctive facial features, skeletal abnormalities, poor coordination, and severe problems with speech. This disease may be differentiated from classic Klinefelter syndrome by increased severity of symptoms. Confirmation is through observation of more than two X chromosomes by karyotyping. |
