Question 1

are life-threatening chromosomal disorders usually detected in early infancy? would a 2 yo have already shown signs if there is was serious problem?

Accepted Answer

Usually: Nowadays, any kid who's a little different is likely to be checked for chromosomal microdeletions. A few are well-known and occasionally, as for velofacial cardiac syndrome, forewarned is forearmed; all the gene testing in the world is no substitute for a good physical exam & appropriate imaging. If junior seems otherwise okay, relax & enjoy being a parent of a kid who'll probably be a joy.

Question 2

what are some chromosomal disorders?

Accepted Answer

Many but rare: The most common is trisomy 21 also known as down's syndrome.  You can have too many y chromosomes (klinefelters) or a missing x (turners).  There are many others, mostly rare and probably a lot of others that are lethal so that even though an egg is fertilized and implants, it does not develop well enough for survivial in utero.

Question 3

should i get testing for chromosomal disorders?

Accepted Answer

Depends: Maternal age over 35, prior child with a disorder, certain family histories, or depending on your ethnic background, you may need or choose testing.  Discussing with your health care provider or a genetic councilor will help you decide.

Question 4

what is the definition or description of: chromosomal disorders?

Accepted Answer

It's genetic: A chromosomal disorder is any disorder that involves a person's genetic makeup.  Humans have 23 chromosomes that basically determine everything about an individual. Your chromosomes determine what color your eyes are, your hair color, but also your internal organs.  If part of a chromosome is missing or duplicated or mutated, then we have a chromosomal disorder.

Question 5

are chromosomal disorders considered as autism?

Accepted Answer

No: Many kids with chromosome disorders have difficulties with communication and behavior and function similar to autistic or pdd patients in the autism spectrum. By convention, having such a medical diagnosis makes such a label inappropriate.

Question 6

what are some somatic chromosome disorders?

Accepted Answer

Variable: Depends on the affected chromosome. The commonest is down's syndrome where there are three #21 chromosomes in each cell instead of the normal two. There are many different varieties of chromosome defects, each with its particular set of changes in appearance and function.

Question 7

what sort of disease is a chromosomal abnormality?

Accepted Answer

Genetic: Chromosomal abnormalities can include extra or missing chromosomes. I will refer this to experts in medical genetics for more information.

Question 8

how do i find out about chromosomal disorder testing?

Accepted Answer

Ask your doctor: There are many tests available.  What you do depends on how much risk you are willing to take; how important this information is to you; whether or not you would terminate the pregnancy if you found out the baby had the problem.

Question 9

can you tell me in what chromosome occur the disorder in elliptocytosis?

Accepted Answer

More than one: Elliptocytosis can result from several genetic mutations, but the most characteristic one is a mutation in the erythrocyte membrane protein band 4.1 gene that is located on chromosome 1.

Question 10

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

Accepted Answer

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.

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Doctor answers about:

Chromosomal disorders signs

A member asked:

Are life-threatening chromosomal disorders usually detected in early infancy? would a 2 yo have already shown signs if there is was serious problem?

A member asked:

What are some chromosomal disorders?

A member asked:

Should i get testing for chromosomal disorders?

A member asked:

What is the definition or description of: chromosomal disorders?

A member asked:

Are chromosomal disorders considered as autism?

A member asked:

What are some somatic chromosome disorders?

A member asked:

What sort of disease is a chromosomal abnormality?

A member asked:

How do i find out about chromosomal disorder testing?

A member asked:

Can you tell me in what chromosome occur the disorder in elliptocytosis?

A member asked:

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

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