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Doctor insights on: Risk Downs Syndrome

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What's downs syndrome?

What's downs syndrome?

Downs syndrome: Down syndrome is a genetic disorder that causes lifelong mental retardation, developmental delays and other problems. Down syndrome varies in severity, so developmental problems range from moderate to serious. ...Read more

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Is patellofemoral syndrome typically associated with marfan's syndrome?

Is patellofemoral syndrome typically associated with marfan's syndrome?

PFS can happen: Marfan syndrome patients can get aches and pains in many joints because of the looser ligaments trying to hold the joints together at rest and under physical stress. Patellofemoral syndrome is common in normal, active school-aged children, so it is hard to tell whether or not it occurs more often in marfan syndrome kids. ...Read more

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Is Marfan syndrome preventable?

Is Marfan syndrome preventable?

Sometimes: Marfan syndrome is preventable when the adults who know they have marfan syndrome thoughtfully choose not to have biological children (50% of their children would have the disease). Some cases are not preventable, such as the 20-30% of marfan syndrome persons who have the disease from a new mutation (neither parent had a mutation). ...Read more

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Does aneuploidy cause Marfan syndrome?

Does aneuploidy cause Marfan syndrome?

Marfan is caused by : A mutation in the fibrillin gene on the long arm of chromosome 15 , 15q15-q21.3. Autisomal dominant inheritance with widely variable clinical findings. Aneuploidy is having an abnormal # of chromosomes from a genetic accident during cell reduction (meiosis). ...Read more

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Dr. Alan Ali Dr. Ali
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What are risk factors for Guillian barre syndrome?

Dr. Alan Ali Dr. Ali
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What are risk factors for Guillian barre syndrome?

GBS: Anyone can develop GBS, but people over 50 yrs. age are more at risk. It develops several days/weeks after having diarrhea or respiratory infection, with most common cause being a bacterium called Campylobacter, & some cases follow the Flu or Epstein Barr virus infection, and rarely after vaccination. ...Read more

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Is lymphangioma associated with downs syndrome or any other genetic disorders?

Is lymphangioma associated with downs syndrome or any other genetic disorders?

Yes and No: About 70% 0f lymphangiomas are seen associatted with genetic syndromes. It is frequently seen in patients with turner syndrome (x0) & occasionally seen in down syndrome (trisomy 21) and others. It also occurs sporadicly in otherwise normal kids. The largest one i ever saw was locates over the trunk and side of a normal kid. ...Read more

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What is antiphospolipid syndrome (hughes syndrome)?

What is antiphospolipid syndrome (hughes syndrome)?

Antiphospholipids: An autoimune disorder characterized by antibodies to certain phopholipids that predisposes to clotting problmes and pregnancy complications. A certain percentage will develop into systemic lupus. ...Read more

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Is XXY klinefelter's syndrome related at all to marfan's syndrome?

No: The two syndromes have some similar features, but they are different syndromes that are unrelated. Klinefelter syndrome is caused by ahaving at least one extra x chromosome in a person who has a y chromosome (normal male=46 xy, klinefelter=47xxy). Typical marfan syndrome is caused by a mutation in fbn1, coding for fibrillin-1. ...Read more

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Is Down syndrome inherited?

Is Down syndrome inherited?

Not usually: The only way to inherit down syndrome is if one parent has down syndrome and passes 2 copies of chromosome 21. Few people with ds reproduce, so that is not usually a factor. ...Read more

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What is downs syndrome, fetal alcohol syndrome, high functioning autism, asperger's syndrome and what are the causes?

What is downs syndrome, fetal alcohol syndrome, high functioning autism, asperger's syndrome and what are the causes?

See below: Down's syndrome. A genetic defect that seems to occur with mother's who are older. Fetal alcohol syndrome: this is caused by excessive intake of alcohol during the pregnancy, especially the early part of pregnancy when the nervous system is developing. As to aspergers, no one is quite sure at this time. ...Read more

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Is marfan's syndrome a genetic mutation?

Yes: Yes it is a mutation in the fbn1 gene on chromosome 15. This gene is responsible for providing the instructions for making a protien called fibrillin which becomes part of microfibrils. Microfibrils are important for providing the strength and flexibility of connective tissue. Connective tissue provides strength and flexibility to bones, ligaments, muscles, blood vessels and heart values. ...Read more

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Is Down Syndrome a sex linked chromosomal disease?

Is Down Syndrome a sex linked chromosomal disease?

No: Down syndrome is an abnormality of chromosome numbers, not a mutation on a sex chromosome. During conception only one of chromosome of each pair is given by both parents to the fertile egg.If a parent adds their 2 # 21 chm to the other parents # 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. ...Read more

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Who is at risk for hellp syndrome?

Who is at risk for  hellp syndrome?

Several: Women at the earlier and later range of childbearing age (teens and women closer to menopause), women with underlying hypertension, women having their first child, women with a history of hellp in a prior pregnancy. ...Read more

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Who is at risk of getting Stockholm syndrome?

Who is at risk of getting Stockholm syndrome?

Prisoners: People being held hostage or prisoner. It can also occur to people who are being abused. It usually occurs in psychologically traumatic situations and is characterized by the victim being overly concerned for the well being of their captor or abuser and even sympathizing with them. The symptoms can continue even after the victim is freed from the situation. ...Read more

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Does someone with celiac disease have a higher risk of also having Marfan syndrome?

No association: Don't believe that there is any association between the two. ...Read more