Karyotype 46, X iso Xq (Q46913): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Doença que afeta mulheres, causada por um dos dois cromossomos X consistindo de dois braços q, que são estruturalmente idênticos e contêm os mesmos genes. Esta doença pode se manifestar com baixa estatura, dobras extras de pele no pescoço, linha do cabelo baixa na nuca, inchaço ou edema de mãos e pés, anormalidades esqueléticas, hipofunção ovariana ou insuficiência ovariana prematura, problemas renais ou defeitos cardíacos. Esta doença pode ser diferenciada da síndrome de Turner clássica por uma falta quase absoluta de desenvolvimento gonadal, resultando em falta de menstruação ou de desenvolvimento da mama. A confirmação é feita por meio da observação de um cromossomo iso Xq por cariotipagem. | |||
| description / en | description / en | ||
A disease affecting females, caused by one of the two X chromosomes consisting of two q arms, which are structurally identical and contain the same genes. This disease may present with short stature, extra folds of skin on the neck, a low hairline at the back of the neck, puffiness or swelling of the hands and feet, skeletal abnormalities, ovarian hypofunction or premature ovarian failure, kidney problems, or heart defects. This disease may be differentiated from classical Turner Syndrome by a near complete lack of gonadal development, resulting in a lack of menstruation or breast development. Confirmation is through observation of an iso Xq chromosome by karyotyping. | |||
Revision as of 15:48, 13 August 2026
A disease affecting females, caused by one of the two X chromosomes consisting of two q arms, which are structurally identical and contain the same genes. This disease may present with short stature, extra folds of skin on the neck, a low hairline at the back of the neck, puffiness or swelling of the hands and feet, skeletal abnormalities, ovarian hypofunction or premature ovarian failure, kidney problems, or heart defects. This disease may be differentiated from classical Turner Syndrome by a near complete lack of gonadal development, resulting in a lack of menstruation or breast development. Confirmation is through observation of an iso Xq chromosome by karyotyping.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD50.01 |
||
| English | Karyotype 46, X iso Xq |
A disease affecting females, caused by one of the two X chromosomes consisting of two q arms, which are structurally identical and contain the same genes. This disease may present with short stature, extra folds of skin on the neck, a low hairline at the back of the neck, puffiness or swelling of the hands and feet, skeletal abnormalities, ovarian hypofunction or premature ovarian failure, kidney problems, or heart defects. This disease may be differentiated from classical Turner Syndrome by a near complete lack of gonadal development, resulting in a lack of menstruation or breast development. Confirmation is through observation of an iso Xq chromosome by karyotyping. |
