Question 1

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 2

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 3

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 4

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 5

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 6

what chromosomes cause the genetic disorder achondroplasia?

Accepted Answer

FGFR3 gene: Achondroplasia is a mutation in the fibroblast growth factor receptor 3, which is an inhibitor that regulates bone growth. In cases of achondroplasia, the fgfr3 gene is too aggressive, negatively impacting bone growth.

Question 7

what are the most common sex chromosome disorders?

Accepted Answer

Kliefelter & Turner: Most common is klinefelter's syndrome 47 XXY (male) next most common is turner syndrome 45 xo (female), following are all much less common:- triple x 47 xxx, hermaprodite 46 xx/xy mixed gonadal dysgenesis, 47 xyy  & 48 xxyy  syndromes. Hermaphroditism can also occur in 46 xx individuals with a fragment of a y chromosome.

Question 8

are all diseases caused by a problem on one of our chromosomes?

Accepted Answer

No, many reasons: Most diseases are caused by infectious agents (viruses, bacteria, fungus, molds, parasites). Some are caused by environmental toxins and some are by defective chromosomes.

Question 9

can anyone tell me what causes a gain of chromosomes in an adult?

Accepted Answer

: People don't gain chromosomes as adults. If you have an extra chromosome as a fetus, development is abnormal, either before birth or during childhood and adulthood. The best known is an extra chromosome 21: Down's syndrome.

Question 10

which chromosome causes cml?

Accepted Answer

Chromosomes 9 and 22: ...are abnormally spliced together in most cases of CML forming a characteristic translocation referred to as the Philadelphia chromosome. At the molecular level this causes a fusion of two genes (BCR and Abl).

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What are some chromosomal disorders?

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Should i get testing for chromosomal disorders?

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What is the definition or description of: chromosomal disorders?

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Are chromosomal disorders considered as autism?

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

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What chromosomes cause the genetic disorder achondroplasia?

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What are the most common sex chromosome disorders?

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Are all diseases caused by a problem on one of our chromosomes?

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Can anyone tell me what causes a gain of chromosomes in an adult?

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Which chromosome causes cml?

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