FAQ - chromosome aberrations
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What chromosome is the genetic disorder Myofibrillar Myopathy on?


My father's mother has the disease, and I'm trying to figure out if it was passed to my Dad, my brother, and I. What chromosome is it on? Any other information is welcome, and if you know of a site where I can talk to a geneticist or other expert, please give me a link. Thanks!
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It is inherited in an autosomal dominant manner, which mean your dad has a 50% chance to inherit it, and you have a 25% chance. As you dad gets older and lives through some of his risk, those chances go down. I great resource for genetic disorders is genetests.com. It can be hard to navigate if you're not used to it, so here's a link for you: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mfm
Without knowing more details, or what you do/don't understand, I can't give more info right now. If you have specific questions, feel free to email me.  (+ info)

How can I find out if I carry the chromosome for agammaglobulinemia?


My father had agammaglobulinemia and my mom didn't. is there a chance I could carry the chromosome for agammaglobulinemia? And how can I find out for sure?

Serious answers please.
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Ask your doctor to send you for genetic testing. Check with your insurance company first to make sure the testing is covered. It'll be $$$$$.  (+ info)

What is the difference between bone marrow biopsy and chromosome analysis?


Bone marrow revealed neutropenia and nurse said that they dont know what's causing it. Tested for every virus and negative. Waiting on chromosome analysis and what does that show?
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"Lab Guy" has a superb answer.
C'mon Pedal7. You know these tests are completely different.
And you also know that it is impossible to test for every virus.
There are many hundreds of viruses. No one checks antibody levels for every one.
Relax and wait for the test results.
Be happy that no evidence of any type of leukemia was identified on the microscopic marrow examination.  (+ info)

What diseases and disabilities are linked to chromosome 17? I need a full list please.?


Can someone please make a list of all the diseases, disabilities and conditions linked to chromosome 17?
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Genetics Home Reference includes these conditions related to genes on chromosome 17:

Alexander disease
Amish lethal microcephaly
Andersen-Tawil syndrome
Birt-Hogg-Dubé syndrome
bladder cancer
breast cancer
campomelic dysplasia
Canavan disease
Charcot-Marie-Tooth disease
cystinosis
Ehlers-Danlos syndrome
epidermolysis bullosa simplex
familial atrial fibrillation
galactosemia
hereditary folate malabsorption
hereditary neuropathy with liability to pressure palsies
hyperkalemic periodic paralysis
hypokalemic periodic paralysis
Job syndrome
Li-Fraumeni syndrome
N-acetylglutamate synthase deficiency
neurofibromatosis type 1
nonsyndromic deafness
osteogenesis imperfecta
pachyonychia congenita
paramyotonia congenita
Pompe disease
potassium-aggravated myotonia
pyridoxal 5'-phosphate-dependent epilepsy
short QT syndrome
Smith-Magenis syndrome
tetra-amelia syndrome
Usher syndrome
very long-chain acyl-coenzyme A dehydrogenase deficiency
Chromosome Trisomy 17 p 11.2- Down's Syndrome
Autism

GeneCards provides a table of genes on chromosome 17 and disorders related to those genes.  (+ info)

What influences the chromosome the male gives?


My husband’s father is 1 of 2 boys. His maternal grandmother had 7 brothers. And his mother’s family is split pretty much 50/50. Does this mean we have a better chance at having a boy? Or is the determination of the chromosome just a flip of the coin?
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Just a flip of the coin. Half of his sperm have an X chromosome and will make a girl, the other half have a Y chromosome and will make a boy.  (+ info)

Where in the chromosome is the defect that causes Tourettes Syndrome?


For my seventh grade health final, I have to make a tri-fold brochure of Tourettes Syndrome. I need to find where in the the patient's chromosome the defect is located. Please be specific! :)
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as far as I know--one has been identified

4. What causes the symptoms?

The cause has not been established, although current research presents considerable evidence that the disorder stems from the abnormal activity of at least one brain chemical (neurotransmitter) called dopamine. There may be abnormal activity of the receptor for this chemical as well. Undoubtedly, other neurotransmitters, e.g. serotonin, may involved as well.  (+ info)

What genetic disorder is caused by only having one chromosome 12?


my biology teacher gave us a blank karyotype sheet and a bunch of chromosomes to cut out and we have to figure out the disorder. when i cut and glued the pieces i found that there was a missing 12th chromosome, but i cant find the genetic disorder that this lack of chromosome 12 causes.
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i want to say down syndrome but im not sure  (+ info)

What chromosome has been determined to carry the gene for Marfan syndrome?


The answer is probably on a "Human Chromosome Map".

I'm looking for more than just chromosome 15.

Thanks a lot!
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"Marfan syndrome has been linked to a defect in the FBN1 gene on chromosome 15,[6] which encodes a glycoprotein called fibrillin-1. Fibrillin is essential for the formation of the elastic fibers found in connective tissue, as it provides the scaffolding for tropoelastin.[3] Elastic fibers are found throughout the body but are particularly abundant in the aorta, ligaments and the ciliary zonules of the eye, consequently these areas are among the worst affected. Without the structural support provided by fibrillin many connective tissues are weakened, which can have severe consequences for support and stability."  (+ info)

Picture of a chromosome carrying an insomnia gene?


I'm doing a project for school and I think this disease is just too new to find any good pictures of the actual chromosome with the gene! So if anyone can find a picture for me that would be great!
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Sorry, but I haven't seen a journal article about an insomnia gene. Doesn't exist.  (+ info)

Does every newborn baby have a blood test done to test for chromosome abnormalities?


I am just curious because my daughter is 3 and she seems to have alot of the traits for the triple X chromosome syndrome. But if they test for chromosome abnormalities when they are born with bloodwork then I will know that it is impossible. I am pretty sure they do but I figured I would ask on here. I will call the doctor as a last resort but I figured I would try here first. Thanks so much!!!!
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I think it may depend upon the state you live in. In Wisconsin they do a newborn screening which is a blood test for all kinds of genetic or chromosomal abnormalities. I am not sure if every state requires this. You may want to call your pediatrician and ask if it was done on your daughter and tell him/her your concerns.  (+ info)

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