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Has any one heard of Mosaic Turner syndrome?
I have checked into the "medical information " side of this but any personal informtation/stories would be appreicated as I have just got my amnio results back and was informed that genetically the child, a girl, has mosaicism with one normal line and oen abnormal. And that this might be indicitive of Turner syndrom. My appointment with the genitic counslor isn't for more than a week... all other children are healthy and this is throwing me for a loop almost 17 weeks along in my pregnancy...
I would love to hear from people with personal experiance with this personally or with a child with this.
Thank you in advance for any information you can give me -

2007-03-26 06:33:58 · 2 answers · asked by Mum of 6 - newest born 8-25-07 3 in Health Women's Health

2 answers

Your genetic counselor will explain everything. The important thing to know is that most women with Turner Syndrome (like me) live normal lives. The biggest problems associated with TS are with reproductive development and infertility. Since your daughter is diagnosed early (if it turns out to be TS), she will be able to take hormones so that she can develop at roughly the same rate as her peers. She will probably always be small for her age (I am only 5'0" at 24 years old), but growth hormone treatments are available should you choose to go that route. She will also most likely be infertile. But by the time she wants to have children, there will of course be lots of options for her (probably several options that don't exist yet!)
Feel free to e-mail me (now or anytime later) via Y! Answers if you have more questions! Best of luck.

2007-03-26 11:52:54 · answer #1 · answered by Heidi 7 · 1 0

Mosaicism is a genetic condition where the cells in the body are not unformly carrying the same genes because they originated from 2 fused cells lines instead of the usual 1 cell.

Turner syndrome is a condition where the cells are default "female" but only carry one X chromosome isntead of the usual XX, or XY. Turners cases are expressed as XO.

Put these two conditions together, and you have the following:

At conception, you apparently fertilized an egg that didn't divide perfectly, and gave rise to two genetically different cells in the embryo. That means in your baby, some of the cells will have XO, and other cells will be possibly XX or XY, depending on what was going on with the sperm. This can interfere with the development of the gonads depending on which cell line makes up those organs. Other parts may not be affected at all.

ADDENDUM TO ADDRESS THE ANSWER BELOW: The difference in this case is, with Mosaic Turner's, you might not fully express Turner's Syndrome because not all cells will be affected. There will be a chance that the child could be fertile and/or grow to normal height. It really depends on which cells are effected by the genetic discrepancy.

2007-03-26 16:54:07 · answer #2 · answered by Gumdrop Girl 7 · 0 0

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