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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.
What type of disorder is klinefelters syndrome gene or chromosomal?
Chromosomal, because the person with Klinefelter's would have 47 chromosomes. A genetic disorder would be any disorder having to do with genes, but would not necessarily mean having an extra chromosome.
What are the 3 major chromosomal disorders?
The three major chromosomal disorders are Down syndrome, Turner syndrome, and Klinefelter syndrome. Down syndrome is characterized by an extra copy of chromosome 21, Turner syndrome involves a missing or incomplete X chromosome in females, and Klinefelter syndrome is caused by an extra X chromosome in males.
Is usher syndrome dominant or recessive?
I am a senior medical sicentist and work with retinal disease. Usher Syndrome is a recessive disease. Recessive diseases require two 'mistakes' in a single gene for a patient to manifest the disease. A dominant disease requires only one 'mistake' in a single gene to manifest the disease. X-linked diseases require a single mistake on the x chromosome. In any case, Usher is recessive. If you have usher, it is likely that you inherited one mistake from you mother and one mistake from your father (they don't manifest the disease themselves as they only have one mistake in the gene, not two). Of course it is also possibloe that you inheirited one mistake from your mother or your father, and the second 'mistake' that you have (if it is yourself with usher) is a new mutation (called a germ line mutation) that originated in the sperm or egg that created you. To all those people out there who post replies....please do not reply unless you know what you are talking about. Misinformation could be dangerous.
What can be diagnosed by examining a karyotype of an individuals white blood cells?
A karyotype of an individual's white blood cells can be used to diagnose chromosomal abnormalities such as Down syndrome, Turner syndrome, and Klinefelter syndrome. It can also detect genetic disorders caused by aneuploidy or large structural chromosomal changes.
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.
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 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 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.
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.
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.
Was there any famous people with Usher Syndrome?
whos famous and ha usher syndrome
What are the chromosomal aberrations of Down syndrome?
There is no actual chromosomal change, there is an extra chromosome.
Is Marfan syndrome a chromosomal mutation?
Yes
How do you get Down syndrome?
You do not "get" Down's syndrome. You are born with it. It is a chromosomal condition of the 21st chromosome.
Which types of mutation affects more genes a gene mutation or a chromosomal?
a gene is passed on from generations and a chromosome is just found in certain cells
