I have recently learnt that my eldest sister who was born still born had Turners Syndrome. She died because she didn't have a bladder. My mum said she looked like a normal baby girl, but she had a webbed neck which is how they knew she was a Turners baby.
I don't know anything about this syndrome and was hoping to learn about it. I don't know why but i want to know what kind of life she could have had, if it would have been enjoyable if she hadn't of passed away.
Turner syndrome is a chromosomal abnormality of the x chromosome. Only females can have Turners Syndrome (there is a similar condition called Noonan's Syndrome that has a similar phenotype that can affect males) It usually presents as having short stature, a wide or webbed neck an unusual hairline - sometimes they develop scoliosis (curvature of the spine). Usually there is normal intellegence. Most girls with Turner Syndrome do not have functioning ovaries. So most are infertile.
If she had not had the urological abnormality (these are not uncommon with Turners) & Turner Syndrome was her only problem she would have been supported with perhaps growth hormones, opthalmological and audiological tests (hearing and sight problems are common but treatable usually)...
Turners Syndrome is a reason behind many still births.
Last edited by Inanna; February 11th, 2010 at 06:15 PM.
Wow! You don't hear TS mentioned too often. A family member has it and you wouldn't know until it is mentioned. Tho, being a shorty is a give away.
Hmmm, she lives a totally normal life. TS has only impacted on developmental stages of reaching womanhood. Hormones were required to bring on puberty and are required to be taken daily. Only downside is she doesn't produce eggs and will require a donation to start a family, tho due to all the meds taken there are secdonary problems as a result and could impact on her ability to carry a child.
Oh, TS girls also have some difficulty with maths according to research and I would agree with this.
Inanna, sorry for the loss of your babies.
With your knowledge of TS do you think it could possibly have an impact on a siblings fertility? I have never been tested.
I guess in your case 1stT it hasn't had an impact on your ability to have a child. It's always at the back of my mind.
My mum was told that her daughters might go on to have the same thing happen. But since my NT scan my doctor said there is little to no chance of that. But thats not to say that my other 1 sisters wont.
It will always be there for me. I have always thought of the sister i could have had. I am so heartbroken for my mum, she being my mums first baby.
She was 19 when it happened, would age have anything to do with it?
As you get older there is an increased risk of genetic abnomalities, but the risk isn't really high until over 40. Even then it really only causes more miscarriages, as the bubbas don't have the right chromosomes to go full term. The younger you are the 'fresher' your eggs are so to speak.
My answer would be no. Not because I know the answer but because this syndrome occurs when one set of the chromosome is missing or damaged. So, unless you had an x chromosome abnormality or your partner did the answer I feel sure would be no...
If you have had chromosomal analysis and your partner has had the same & you both have normal chromosome studies I think it would be very unlikely.
Awesome. My results from my NT showed 1 in 20,000 chance of down syndrome and 1 in 38,000 in other abnormalities which i thought were outstanding. As i was expecting them to be much lower considering my family history.
As Inanna said there is no increased risk to you, or any of your siblings, of having a bub with Turner Syndrome. There is also no increase in risk of difficulties with fertility in you or your siblings as a result of your sister having Turner syndrome.
Turners Syndrome
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