Question 1

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 2

which diseases and disabilities are linked to chromosome 17?

Accepted Answer

Unusual question: why do you want to know?  Are you writing a homework assignment or has someone told you that you or someone you know has an abnormal chromosome 17?  The answers come from the cytogeneticist who analyzed the chromosomes==not from a list of over a thousand genetic loci which might have mutations.

Question 3

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 4

can you please please make a list of all the diseases, disabilities and conditions linked to chromosome 17?

Accepted Answer

Chromosome 17 issues: Alexander disease
Andersen-Tawil syndrome
Birt-Hogg-Dubé syndrome
Bladder cancer
Breast cancer
Camptomelic dysplasia
Canavan disease
Cerebroretinal microangiopathy with calcifications and cysts
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type 1
Corticobasal degeneration
Cystinosis
Depression
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, classical type
Epidermodysplasia verruciformis
Galactosemia
Glycogen storage disease type II (Pompe disease)
Hereditary neuropathy with liability to pressure palsies
Howel–Evans syndrome
Li-Fraumeni syndrome
Maturity onset diabetes of the young type 5
Miller-Dieker syndrome
Multiple synostoses syndrome
Neurofibromatosis type I
Nonsyndromic deafness
Nonsyndromic deafness, autosomal dominant
Nonsyndromic deafness, autosomal recessive
Osteogenesis imperfecta
Osteogenesis Imperfecta, Type I
Osteogenesis Imperfecta, Type II
Osteogenesis Imperfecta, Type III
Osteogenesis Imperfecta, Type IV
Potocki-Lupski syndrome
Proximal symphalangism
Smith-Magenis syndrome
Usher syndrome
Very long-chain acyl-coenzyme A dehydrogenase deficiency

Question 5

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 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

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 8

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 9

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 10

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.

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A member asked:

What are the most common sex chromosome disorders?

A member asked:

Which diseases and disabilities are linked to chromosome 17?

A member asked:

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

A member asked:

Can you please please make a list of all the diseases, disabilities and conditions linked to chromosome 17?

A member asked:

What are some chromosomal disorders?

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What are some somatic chromosome disorders?

A member asked:

Should i get testing for chromosomal 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:

What is the definition or description of: chromosomal disorders?

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