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Is usher syndrome a gene or chromosomal?
Usher syndrome is a relatively rare genetic disorder caused by a mutation. The gene is not carried on one of the sex chromosomes (X or Y).
If Rett syndrome is a chromosomal abnormality what is the abnormality?
Rett syndrome is not primarily caused by a chromosomal abnormality, but rather a genetic mutation in the MECP2 gene located on the X chromosome. This gene provides instructions for making a protein that is important for brain development. Mutations in the MECP2 gene disrupt the production of this protein, leading to the characteristic features of Rett syndrome.
An inherited disease or disorder that is caused by a mutation in a gene or by a chromosomal defect?
There are many thousands of different mutations.
Is Tourette syndrome a single gene disorder?
The exact cause of Tourette syndrome is currently unknown, but it is well established that both genetic and environmental factors are involved. Genetic epidemiology studies have shown that the overwhelming majority of cases of Tourette syndrome are inherited, although the exact mode of inheritance is not yet known and no gene has been identified. It seems unlikely that only a single gene controls Tourette syndrome, most likely it is the result of some suite of interacting genes.
Is down syndrome a single gene disorder?
People with Down syndrome have an extra copy of chromosome 21 in every cell. Down syndrome most often occurs when chromosomes fail to separate properly during meiosis, when sex cells form. Hope this helps!!
Is usher syndrome a gene or chromosomal?
Usher syndrome is a relatively rare genetic disorder caused by a mutation. The gene is not carried on one of the sex chromosomes (X or Y).
Is marfan syndrome a chromosomal abnormality?
No, Marfan syndrome is not a chromosomal abnormality. It is a genetic disorder caused by a mutation in the fibrillin-1 (FBN1) gene, which affects the body's connective tissue. This gene is located on chromosome 15.
I what conditions is caused by a sex-linked gene klinefelters syndrome down syndrome muscular dystrophy?
Klinefelters is sex chromosome trisomy. Down Syndrome is trisomy. One of the most common forms of MD is sex-linked and affects boys more frequently than it does girls.
Is down's syndrome caused by a gene or chromosomal mutation?
Neither. It is an extra #21 chromosome.
If Rett syndrome is a chromosomal abnormality what is the abnormality?
Rett syndrome is not primarily caused by a chromosomal abnormality, but rather a genetic mutation in the MECP2 gene located on the X chromosome. This gene provides instructions for making a protein that is important for brain development. Mutations in the MECP2 gene disrupt the production of this protein, leading to the characteristic features of Rett syndrome.
Is Rett syndrome a nondisjunction disorder?
No, Rett syndrome is not a nondisjunction disorder. It is primarily caused by mutations in the MECP2 gene, located on the X chromosome, and is typically inherited in an X-linked dominant manner. Nondisjunction disorders, such as Down syndrome, result from errors in chromosome separation during cell division. In contrast, Rett syndrome arises from specific genetic mutations rather than chromosomal abnormalities.
An inherited disease or disorder that is caused by a mutation in a gene or by a chromosomal defect?
There are many thousands of different mutations.
Is down syndrome and pku caused by chromosomal abnormalities?
Down syndrome is caused by an additional chromosome while PKU is due to a mutation or defect in a gene.
Is huntingtons a chromosomal or a genetic disease?
Hungtington's disease is a dominant mutation in the gene that codes for the protein 'Huntington' It only affects a single gene, the remainder of the chromosome is unaffected and therefore it is not a chromosomal abnormality
Is the disease marfan syndrome a chromosomal ad normality?
Yes. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.
How is usher syndrome inherited?
Usher syndrome is inherited as an autosomal recessive trait. The term autosomal means that the mutated gene is not located on either of the chromosomes that determine a person's sex; in other words, both males and females can have the disorder and can pass along the disorder to a child. The word recessive means that to have Usher syndrome, an individual must receive a mutated form of the Usher syndrome gene from each parent. If a child has a mutation in one Usher syndrome gene but the other gene is normal, he or she is predicted to have normal vision and hearing. Individuals with a mutation in a gene that can cause an autosomal recessive disorder are called carriers, because they "carry" the gene with a mutation but show no symptoms of the disorder. If both parents are carriers of a mutated gene for Usher syndrome, they will have a one-in-four chance of having a child with Usher syndrome with each birth.
What gene is affected in Down Syndrome?
It is the result of a chromosomal abnormality, in which there is an extra chromsome on the chromosome 21 pair. This is call trisomy 21.
