Question 1

is it possible to have extra stretchy skin without having some serious underlying condition like ehlers-danlos syndrome or marfan syndrome?

Accepted Answer

Potentially: There certainly is a variation in what is considered normal for skin elasticity.  Don't hesitate to be seen if there is a question.  A biopsy can usually be pretty definitive if there'd is any question about the diagnosis.

Question 2

is marfan syndrome a sex-linked disease?

Accepted Answer

No: Marfan syndrome is an autosomal dominant connective tissue disorder caused by abnormal microfibrillin protein. If a parent is affected by the disorder, their offspring has a 50/50 chance of inheriting it, regardless of whether the baby is a boy or a girl.

Question 3

can you give me the karyotype of the marfan syndrome?

Accepted Answer

Marfans: A karyotype of someone with Marfan's Syndrome would look no different than a normal karyotype. That is because Marfan's is caused by as little as one mutation to one gene (fibrillin-1), and this mutation would not be visible in a karyotype. It is  a dominant trait and if one parent is affected, it may be passed to their child.

Question 4

could i have marfan syndrome with only skeletal abnormalties?

Accepted Answer

PossibleI: While anything is possible, it's doubtful.

Question 5

is marfan syndrome preventable?

Accepted Answer

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).

Question 6

is marfan syndrome associated with nf?

Accepted Answer

No, they are : Unrelated genetic disorders.

Question 7

does marfan syndrome skip generations?

Accepted Answer

No, but. . .: Marfan synd. Doesn't skip generations, but sometimes it's mild enough that the person who seemed to have skipped the disease actually had a mild case of it. Also, it is possible that a child of a Marfan synd. Parent doesn't inherit the mutation (child is normal), but that child's child or grandchild gets a new mutation or marries a mild, undiagnosed Marfan patient... Leading to future Marfan kids.

Question 8

does aneuploidy cause marfan syndrome?

Accepted Answer

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).

Question 9

what chromosome is affected by marfan syndrome?

Accepted Answer

Chromosome 15: Marfan syndrome is caused by a mutation in the fbn1 gene on chromosome 15. The "address" for this gene is 15q21.1. This gene codes for a protein called fibrillin-1.  Inheritance is autosomal dominant.

Question 10

why are patients with marfan syndrome body thin?

Accepted Answer

: The genetic mutations change the way how the affected patient's body develops.

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Doctor answers about:

Marfan syndrome how does it affect the skin

A member asked:

Is it possible to have extra stretchy skin without having some serious underlying condition like ehlers-danlos syndrome or marfan syndrome?

A member asked:

Is marfan syndrome a sex-linked disease?

A member asked:

Can you give me the karyotype of the marfan syndrome?

A member asked:

Could i have marfan syndrome with only skeletal abnormalties?

A member asked:

Is marfan syndrome preventable?

A member asked:

Is marfan syndrome associated with nf?

A member asked:

Does marfan syndrome skip generations?

A member asked:

Does aneuploidy cause marfan syndrome?

A member asked:

What chromosome is affected by marfan syndrome?

A member asked:

Why are patients with marfan syndrome body thin?

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