Triploidy (Q46844): Difference between revisions
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Doença causada por um conjunto adicional de cromossomos, totalizando 69 cromossomos. A triploidia pode se manifestar com albuminúria, edema ou hipertensão na mãe. O feto pode apresentar microcefalia e uma placenta que está aumentada e cheia de cistos no caso de cromossomos extras herdados da mãe, enquanto cromossomos extras herdados do pai causam problemas graves de crescimento, cabeça aumentada e uma placenta pequena que não tem cistos. A triploidia sem mosaico é altamente letal e raramente observada em nascidos vivos. A confirmação é feita por meio da observação de um conjunto adicional de cromossomos por cariotipagem. | |||
| description / en | description / en | ||
A disease caused by one additional set of chromosomes, for a total of 69 chromosomes. Triploidy can present with albuminuria, oedema, or hypertension in the mother. The fetus may present with microcephaly and a placenta that is enlarged and filled with cysts in the case of extra maternally inherited chromosomes, while extra paternally inherited chromosomes cause severe growth problems, an enlarged head, and a small placenta that does not have cysts. Non-mosaic triploidy is highly lethal, and is rarely observed in live births. Confirmation is through observation of an additional set of chromosomes by karyotyping. | |||
Revision as of 15:41, 13 August 2026
A disease caused by one additional set of chromosomes, for a total of 69 chromosomes. Triploidy can present with albuminuria, oedema, or hypertension in the mother. The fetus may present with microcephaly and a placenta that is enlarged and filled with cysts in the case of extra maternally inherited chromosomes, while extra paternally inherited chromosomes cause severe growth problems, an enlarged head, and a small placenta that does not have cysts. Non-mosaic triploidy is highly lethal, and is rarely observed in live births. Confirmation is through observation of an additional set of chromosomes by karyotyping.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD42.0 |
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| English | Triploidy |
A disease caused by one additional set of chromosomes, for a total of 69 chromosomes. Triploidy can present with albuminuria, oedema, or hypertension in the mother. The fetus may present with microcephaly and a placenta that is enlarged and filled with cysts in the case of extra maternally inherited chromosomes, while extra paternally inherited chromosomes cause severe growth problems, an enlarged head, and a small placenta that does not have cysts. Non-mosaic triploidy is highly lethal, and is rarely observed in live births. Confirmation is through observation of an additional set of chromosomes by karyotyping. |
