Top
30
Doctor insights on: Diseases Caused By Chromosomal Mutations

Share

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


2

2
Can you tell me is hurler's syndrome nondisjunction, a sex-linked disorder or a type of mutation in a specific chromosome?

Recessive disorder: Hurler syndrome is caused by a mutation in idua gene located in chromosome #4. It is an autosomal recessive condition which means that one has both copies of the gene changed, the one inherited from father, and the one from mother. Parents are thus carriers of the condition. ...Read more

3

3
I have a correction to make: was is caused by a mutation in the x chromosome. Females are the carriers and males are affected.?

I have a correction to make: was is caused by a mutation in the x chromosome. Females are the carriers and males are affected.?

Confused: This appears to be an add on to a previous question. Your questions are never linked on the site & there is no way we can review them. Each question must have basic background information and a related question. It is hard to comment when we don't know what condition you are asking about. ...Read more

4

4
Dwarfism is caused by the mutation of which chromosome?

Dwarfism is caused by the mutation of which chromosome?

Many types: There are many different types, for example, the most common type is achondroplasia which is on the short arm of chromosome 4. ...Read more

5

5
Which type of chromosomal mutation causes down syndrome?

Which type of chromosomal mutation causes down syndrome?

Not mutation, number: Down syndrome is an abnormality of chromosome numbers, not a trait or mutation in the gene code. During conception only one of chromosome of each pair is given by both parents to the fertile egg. If a parent adds their 2 nbr 21chm to the other parents nbr 21, 3 end up in the egg ; the excess 21 causes the all the problems. Rare forms are causes by a extra piece of a 21, but that's another issue. ...Read more

6

6
What mutation of chromosome 1 can cause cataracts?

What mutation of chromosome 1 can cause cataracts?

Various mutations: There are many syndromes associated with mutations in Chr 1 that are associated wtih cataracts: ie Retinitis Pigmentosa; 1.35-Mb deletion within 1q21.1
More info: eyedoc2020@blogspot. Com ...Read more

7

7
What mutation of chromosome 1 can cause cataracts?

What mutation of chromosome 1 can cause cataracts?

Various: There are many syndromes associated with mutations in Chr 1 that are associated wtih cataracts: ie Retinitis Pigmentosa; 1.35-Mb deletion within 1q21.1
More info: eyedoc2020@blogspot. Com ...Read more

8

8
What kind of chromosomal mutation causes the cri du chat syndrome?

Chromosome deletion: Cri du chat is a rare genetic disorder to to chromosome deletion on chromosome 5. See the good discussion of it here: https://en. Wikipedia. Org/wiki/Cri_du_chat

Here's a great organization formed to educate and support: https://fivepminus. Org/ ...Read more

9

9
Will a colorblind woman always have colorblind children? I know the cause is a mutation on the x-chromosome and a woman has to have the mutation on both her x’s. So that means all her children will have the colorblind gene. So will her children all be col

Will a colorblind woman always have colorblind children? I know the cause is a mutation on the x-chromosome and a woman has to have the mutation on both her x’s. So that means all her children will have the colorblind gene. So will her children all be col

Her: Her male children will be colorblind because all of her male children will have one of her x's with the colorblindness gene and a y from the dad that cannot cancel out the colorblindness gene on her x.

If she has children with a man who is not colorblind than her daughters will carry the gene, but not be colorblind themselves since they'll have a normal x from their dad to cancel out their mom's x with the colorblindness gene.

If she has children with a man who is colorblind, then her daughters will be colorblind also.

This is why colorblindness is much more common in men than in women.


Legal disclaimer: I am providing this general and basic information as a public service and my response to this question does not constitute a doctor-patient relationship. For any additional information, advice, or specific concerns, please speak with your own physician. The information provided is current as of the date of the answer entry. ...Read more

10

10
What are the causes of gene mutations in chromosone 4?

Luck: Mutations are usually luck based. Bad luck. Other non-genetic deformities are often genetic or environmental, but can also be bad luck too. ...Read more

11

11
Are birth defects in amish caused by a mutation or a chromosonal abnormality?

Are birth defects in amish caused by a mutation or a chromosonal abnormality?

Both: Birth defects occur in every group of human beings on this earth. Often the cause is genetic, including chromosome rearrangements and mutations in single genes. Babies born to amish mennonite parents are no different. But in close-knit communities - amish, bedouin, roma, etc - parents are more likely to both carry the same mutation and bear a child with a genetic disease with # birth defects. ...Read more

12

12
What is the difference in chromosomal and gene mutations?

What is the difference in chromosomal and gene mutations?

8.6k genes on chrom: We have 20, 000 genes on our 23 chromosomes. We have 2 copies of each chromosome except for the 23rd pair (X & Y in males and X & X in females). A gene mutation affects a single gene on one copy of one chromosome. A chromosomal abnormality affects many genes. It may be a 3rd copy or just a single copy of part/all of a chromosome or a 'translocation' can place part of a chromosome onto another. ...Read more

14

14
What is the difference between a mutation and a chromosomal abnormality?

What is the difference between a mutation and a chromosomal abnormality?

Size.: Mutations are strategically placed minute changes in dna that change the message encoded in it to produce abnormal proteins and pathological symptoms. Chromosomal abnormalities (e.g. Down syndrome), are larger changes in the number of dna packages (chromosomes) each cell carries, so that many organ systems malfunction (brain, heart, bone marrow, etc). ...Read more

15

15
I wanted to know is celiac a chromosome or point mutation?

Neither: The main risk factor that must be inherited is a specific immune sensing molecule but it is not mutated. There are other regions of genetic risk that are being worked out. ...Read more

16

16
Is elephantiasis a gene or chromosomal mutation? Please advise!

Is elephantiasis a gene or chromosomal mutation? Please advise!

Elephantiasis: Elephantiasis is caused by infection with the filarial worm, which is transmitted to humans by mosquitos. It lives in the human lymphatic system. It is not a gene or chromosomal mutation.
...Read more

18

18
What chromosomal mutation results in alagille syndrome?

What chromosomal mutation results in alagille syndrome?

ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read more

19

19
How can I find out if I carry the chromosome mutation for agammaglobulinemia?

Genetic counsellor: There are several possible tests that could be done. Because testing is expensive and highly specialized it needs to be focused on the right target. Depending upon your history and relations with or without disease it may make sense to use one test and not another or not test at all. If this is a real concern I would see your doc for referral to a genetic counsellor. ...Read more

20

20
Is Marfan sydrome because of an extra or missing chromosome or other mutation?

Is Marfan sydrome because of an extra or missing chromosome or other mutation?

Genetic disorder: Marfan's syndrome is a genetic disorder of connective tissue (ligaments and similar soft tissue) that is caused by a defective gene. It can be passed from generation to generation because it is " autosomal dominant "; meaning only one parent has to have the defective gene for it to be passed on. Pt's w/ marfan's tend to be tall w/ long fingers/ extremities and loose joints; many have heart (valve)abn. ...Read more

22

22
Can phenylketonuria (pku) be a chromosomal mutation?

Sort of: It may be a matter of terminology. Pku is a genetic disorder due to mutations in a gene. See this site for more info.
http://www. Mayoclinic. Com/health/phenylketonuria/ds00514. ...Read more

24

24
Is williams syndrome a gene or chromosomal mutation?

Is williams syndrome a gene or chromosomal mutation?

Microdeletion: Williams syndrome is caused by small loss (deletion) of genetic material from long arm of chromosome number 7. ...Read more

25

25
How do a gene mutation and a chromosomal mutation differ?

Mutations: A chromosome will contain many genes, so a chromosome mutation will effect many genes. A gene mutation will have an effect only on that gene. ...Read more

26

26
Please help! What is the difference between a gene mutation and a chromosomal mutation?

Please help! What is the difference between a gene mutation and a chromosomal mutation?

Size: Chromosomes are the large packages containing the genes, usually changes in the genes are called mutations and changes in the chromosomes are copy number variations or changes involving gain or loss of chromosome material ...Read more

27

27
Does a homozygous gene mutation, e.g. 1p36.3, make me more likely to have other mutations in nearby genes on the same chromosome, e.g.1p34.1?

Does a homozygous gene mutation, e.g. 1p36.3, make me more likely to have other mutations in nearby genes on the same chromosome, e.g.1p34.1?

No: Gene mutations are still being researched and from my opinion, I don't think we're even close to scratching the surface of the miraculous human genome. That being said, mutations are a normal part of our evolution. Is therea reason you're concerned? If we know, you will likely get an answer sooner. ...Read more

28

28
Chromosomal mutation in my right foot. I am now pregnant and I worry that this abnormality can be carried over to my child. What is the risk?

Unknown: Without a specific DX it is impossible to offer any suggestions on recurrence risk. Your best source of information will be a geneticist who can review the condition and any genetic factors along with the other genetic input from both sides of the family to give you a sence of what could happen. ...Read more

29

29
I was told my 10 yr old son had a variant g-banded mutation of the 9th chromosome. What does this mean? He's also a selective mute an social anxiety.

Why was test done?: Associations between genetic pattern and behavior are co-relates.
I would be cautious about such interpretations.
Autism specrum disorders and such similar entities, still seem to have a multi factorial etiologies.
It woould be too simplistic to explai it on one mutation per se. ...Read more