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Doctor insights on: Chromosomal Disorders

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Dr. Richard Roberts
16 doctors shared insights

Chromosomal Disorders (Overview)

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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Should I get testing for chromosomal disorders?

Should I get testing for chromosomal disorders?

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. ...Read more

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Dr. Richard Roberts
16 doctors shared insights

Chromosomal Disorders (Overview)

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

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

Yes: The normal impact of chromosome abnormalities is the interruption of complex fetal organ development. Too many or too few genes change the process.The heart/brain/facial features/hands & feet are all complex & usually show the effects.Some kids escape defects in one area but show them in another. Most are evident within the first months but some less threatening defects can escape early detection. ...Read more

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Treating Obsessive Compulsive Disorder (Checklist)

See a psychiatrist
once
Engage in cognitive behavioral therapy
once
Make sure OCD is not a possible side effects of your medications
once
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What chromosomes cause the genetic disorder achondroplasia?

What chromosomes cause the genetic disorder achondroplasia?

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. ...Read more

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Does a flat nasal bridge and wide set eyes always mean a chromosome disorder?

Does a flat nasal bridge and wide set eyes always mean a chromosome disorder?

No: Sometimes this is a normal inherited trait. Try to see if others in the family share that trait. If you suspect that this person has a chromosome disorder, the doctors that diagnose them are called genetecists. If the person is your child it's best to see a pediatrician about your concerns first. (of course, if this is a coworker or the like, it's best to just leave it be ;). ...Read more

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What are some chromosomal disorders?

What are some chromosomal disorders?

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. ...Read more

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Living with Borderline Personality Disorder (Checklist)

Maintain cognitive therapy for supportive feedback
Once
Exercise to reduce stress and increase endorphins
Once
Avoid alcohol to reduce anxiety and depression
Once
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What are some x and y chromosomal disorders?

What are some x and y chromosomal disorders?

A few: These are uncommon. You can have extra y chromosomes termed klinefelter's syndrome and you can have only one x termed turner's syndrome. One y only, is lethal. Extra x chromosomes can occur but usually are normal. ...Read more