Marfans' or Turners' Syndrome ?

[aussigal]

I had an email from Arlys at BAVD.

In it she mentioned Turners Syndrome..

I hadnt heard of it...so of course off i went to learn...
now I return to ask if anyone knows if it is possible to have both ?

I would class my sister as Turners with a touch of Marfans and myself as Marfans with a touch of Turner signs ...

could we be so unlucky in the gene pool!?...shouldnt we both have spontaneously aborted as fetuses? .. mum said she had great difficulty getting pregnant! and this was the early 60's and nope she didnt take Thalidomide .

 

[KristiinSD]

What I know about Turner's and Marfan's syndrome

What I know about Turner's and Marfan's syndrome

Turner's syndrome is a chromosomal disorder that effects females only, where only one x chrosome is present (sometimes part of the second x is present, but not usually). This is usually because of some fluke during mitoisis or other cell changes. Women with Turners are invariably short and sterile.

In contrast, Marfan's is an inherited disorder of the connective tissue. Generally, the heart is affected and folks need to be careful about avoiding endocarditis. People with Marfan's are usually very tall and thin. Its one of the things immediately suscpected whenever some pro basketball player has heart problems.

There is no reason, IMHO, that a person should not have both Turner's and Marfan's except for the rarity of Turner's (and the significant chance of miscarriage due to genetic abnormality). Since you have kids, I assume you are not sterile and therefore most likely don't have Turner's...

Hope this helps.

Kristi
surgery 11/29/05

 

[Curtsmum]

I have no idea, what any of these are but as usuall i wish you all the best. Still keeping my fingers crossed for your middle son. Hope to hear from you soon.

 

[aussigal]

maybe the boys dont want to read these bits !

maybe the boys dont want to read these bits !

OK...so I think I must be going for being amongst the RAREST on earth .

BAVD then Marfans now Turners'

I went off to learn about Turners' and this is where I began...its such a comprehensive-site I didnt get past it even!
http://www.turner-syndrome-us.org

Now I do get the bit about infertility and my 3 sons which were easily concieved naturally.

here comes the BUT !

My sister on the other-hand 2 1/2 yrs younger than me had nothing but trouble and Clomid (fertility-drug) to get pregnant and lost at least one to miscarriage. She also was tiny for her age until at about 16 puberty suddenly arrived whereas I was much closer to "normal" in that respect, and always the tallest girl in class. She's also only ever had about 10 periods in all her 38 years! To look at us we look identical minus the huge baby-bump she presently sports .

I am wondering if there are varying degrees of Turner's like there are with many of these things?

Now my dear Ben (middle-son) is the one who most-resembles a Marfan very tall and lanky and has always had floppy-muscles and soft white doughy skin. I also noticed from birth he has the short fourth metacarpal (toes) now I'll just run around checking all our toes , Oh if it were only so simple as flashing your toes to get a diagnoses?!...

EDS (Ehlers-Dahnlos Syndrome) is also on my list of learning as it has similarities too...thankfully the genetics-joint is doing all these 2 but I know the more research I do we will have a better chance to "NAME" the correct syndrome!