About Cat-Eye Syndrome
El New York Center for Rare Diseases apoya la misión y las pautas del Centro de Información sobre Enfermedades Raras y Genéticas (GARD, por sus siglas en inglés). La siguiente información ha sido proporcionada por los NIH.
Resumen
Cat-eye syndrome is a chromosome abnormality that affects many different parts of the body. The signs and symptoms of the condition vary widely but may include abnormalities of the eyes, ears, anal region, heart, and/or kidney. In people affected by Cat-eye syndrome, each cell has at least one small extra (duplicate) chromosome made up of genetic material from chromosome 22. This extra genetic material leads to the characteristic signs and symptoms of the condition. Most cases of Cat-eye syndrome occur sporadically in people with no family history of the condition.
Causas
¿Qué causa esta enfermedad?
Genetic Mutations: Cat-eye syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these.
Si sospecha que puede tener esta enfermedad, se recomienda que empiece a recopilar el historial de salud de su familia. Debe comentar con su equipo médico cualquier información sobre otros familiares que hayan tenido síntomas similares, cuándo aparecieron por primera vez dichos síntomas (en usted o en sus parientes) o la exposición a factores ambientales que pudieran, potencialmente, causar la enfermedad.
Chromosomal Changes: Cat-eye syndrome is caused by a change in the number of chromosomes a person has, or a change in their structure. Chromosomes are structures within cells that hold all our genes. People usually have 46 chromosomes, 23 come from the biological mother and 23 come from the biological father. Most of the time, chromosomal changes occur randomly in the sperm or egg, but some changes are known to be passed on from parent to child.
Dados los cambios cromosómicos conocidos de esta enfermedad, se recomienda que pregunte a su equipo de atención médica si las pruebas cromosómicas son adecuadas para usted. Los resultados de las pruebas cromosómicas pueden confirmar o descartar una posible enfermedad cromosómica, o determinar la probabilidad de que una persona transmita una enfermedad.