Question 1

which type of chromosomal mutation causes down syndrome?

Accepted Answer

Trisomy 21: Down syndrome is also called trisomy 21.  That means that there is a partial or complete third copy of the chromosome 21.  It is the most common chromosomal abnormality.

Question 2

which type of mutation causes down syndrome?

Accepted Answer

No : 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.

Question 3

can you show me more than 5 syndromes that are cause by dna mutation such as down syndrome, etc?

Accepted Answer

Here you go: Edwards syndrome, cre du chat syndrome, angelmann syndrome, turner syndrome, klinefelter syndrome, just to name 5 on the top of my head.

Question 4

is there a type of mosaic down syndrome that doesn't require the mutation to come from either parent to have a downs child?

Accepted Answer

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.

Question 5

is down syndrome always caused by a defect in the 21 chromosome?

Accepted Answer

Extra chromosome 21.: Either complete or partial trisomy for chromosome 21 is always responsible for down syndrome.

Question 6

will cystic fibrosis mutation test detect down syndrome during pregnancy?

Accepted 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.

Question 7

what is the reasons that lead to inversion duplication in chromosome 21 that lead to down syndrome?

Accepted Answer

Explanation : Down syndrome is trisomia of 21 chromosome due to abnormal distribution of chromosomes in process of cell's divisions. Some risk factors as mother"s age after 35 years very important.

Question 8

i'm doing a science project on down syndrome and my teacher wants to know dominate recessive or chromosomal (how common) can you help?

Accepted Answer

Aneuploidy is a : genetic accident, not an inheritable disorder. If you really want to learn about it, you can try the professional website OMIM.org. If that's not for you, try www.ndss.org or www.nads.org.

Question 9

can chromosomal microarray detect down syndrome? what's the difference between chromosomal microarray and the conventional karyotypying?

Accepted Answer

It may, depends: First step is conventional karyotyping, if the clinical suspicion present for Down syndrome, detection of an extra chromosome 21, or trisomy, instead of two.  In 95% of Down syndrome it&#x27;s diagnostic, but If it didn&#x27;t detect and suspicion is 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-s

Question 10

does measuring small during first us appt (being 1 week off - measured 6w2d, should be 7w2d) indicate issues down the line (i.e. increased risk for down syndrome or other chromosomal abnormalities, etc.)?

Accepted Answer

: Conception date can be determined by Last Menstrual Period (LMP) or by early ultrasound calculation. If the dates do not match, the Ultrasound date is typically more accurate. It does not mean that the baby measured small, just that your original calculation may have been off. Because ovulation varies with each cycle, conception dates are difficult to pinpoint with LMP.

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Doctor answers about:

Which type of chromosomal mutation causes this form of down syndrome

A member asked:

Which type of chromosomal mutation causes down syndrome?

A member asked:

Which type of mutation causes down syndrome?

A member asked:

Can you show me more than 5 syndromes that are cause by dna mutation such as down syndrome, etc?

A member asked:

Is there a type of mosaic down syndrome that doesn't require the mutation to come from either parent to have a downs child?

A member asked:

Is down syndrome always caused by a defect in the 21 chromosome?

A member asked:

Will cystic fibrosis mutation test detect down syndrome during pregnancy?

A member asked:

What is the reasons that lead to inversion duplication in chromosome 21 that lead to down syndrome?

A member asked:

I'm doing a science project on down syndrome and my teacher wants to know dominate recessive or chromosomal (how common) can you help?

A member asked:

Can chromosomal microarray detect down syndrome? what's the difference between chromosomal microarray and the conventional karyotypying?

A member asked:

Does measuring small during first us appt (being 1 week off - measured 6w2d, should be 7w2d) indicate issues down the line (i.e. increased risk for down syndrome or other chromosomal abnormalities, etc.)?

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