Doctor insights on:
Which Type Of Chromosomal Mutation Causes This Form Of 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 moreSee 1 more doctor answer
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
Is there a type of mosaic Down syndrome that doesn't require the mutation to come from either parent to have a downs child?
Yes: A mosaic down syndrome child can come from a normal egg and normal sperm, produced by normal parents. The fertilized egg would start out normal with 46 chromosomes. It can divide into 2 normal cells, which themselves divide again. If on one of the early divisions, one cell ends up with an extra #21 chromosome and survives to continue dividing, the child will be mosaic with some trisomy 21 cells. ...Read moreSee 1 more doctor answer
Why do Down syndrome patient have their eyes slanted upward, is it caused by the chromosome 21, i need an explanation on why their face look different?
In the genes: All of our features are determined by our genes. The appearance of your eyes, nose, mouth, hair color, skin color, among other features are all inherited. When there is a defect in the gene coding, changes can occur. Facial features can change with in utero exposure such as alcohol (fas syndrome). For downs, the extra 21 causes low ears, slanted eyes, simian crease as well as organ problems. ...Read moreSee 1 more doctor answer
Separate study: If you are having the one study done it is simple enough to arrange for the other study at the same time. They are separate tests and often done at a separate lab. ...Read more
What is the reasons that lead to inversion duplication in chromosome 21 that lead to down syndrome?
No: Down syndrome is an abnormality of chromosome numbers, not a mutation on a sex chromosome. During conception only one of chromosome of each pair is given by both parents to the fertile egg.If a parent adds their 2 # 21 chm to the other parents # 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 moreSee 1 more doctor answer
I'm doing a science project on down syndrome and my teacher wants to know dominate recessive or chromosomal (how common) can you help?
Do your homework: There is a simple answer but this is not where you should go to get it.Your instructors are going to want you to provide your references to any data you come up with. Your question suggests you are too young to be submitting questions to HT. You must be 16. ...Read moreSee 1 more doctor answer
What would be a good way to cure down syndrome? What would be a way to remove the extra chromosome from every cell in the body? I need a good idea. Thanks :)
How do I make a punnutt square for Down Syndrome. Yes, it's a chromosome defect, but it can also be inherited. answer asap. Thanks!
Can chromosomal microarray detect down syndrome? What's the difference between chromosomal microarray and the conventional karyotypying?
It may, depends: First step is conventional karyotyping, if the clinical suspicion present for Down syndrome, detection of an extra chromosome 21, or triploidy, instead of two. In 95% of Down syndrome it's diagnostic, but If it didn't detect and suspicion still there - next step could be a microarray, which designed to detect submicroscopic abnormalities not detected by regular karyotyping for the rest of 5% D-se ...Read more
What are the chances my child will be born with chromosomal abnormalities? I was told my unborn child has echogenic bowels, that i tested higher for the risk of Down syndrome and as a carrier of the cystic fibrosis trait
There : There are several ultrasound findings that can suggest down sysndrome, and echogenic bowel is one of them. There could be other explanations for that finding, though. It sound like you will need some testing to find out what's going on. The two tests used most commonly are amniocentesis and chorionic villous sampling. Each has its own risks and benefits, so you should discuss them with your obstetrician. I would suggest that you do this sooner than later, and regardless of whether the outcome might lead you to terminate the pregnancy. ...Read more
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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
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
Poor health: The expected lifespan of a ds patient born today exceeds 60 years if they have access to the basic medical care & dietary resources of average individuals. They do have higher risks for a variety of health issues involving their glands (thyroid, diabetes) their bones (scoliosis, joint pain & weakness) and the impact of obesity is much worse for their overall health. ...Read more
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