Daughter diagnosed with turners syndrome, 45x, 47xxx

Michelle - posted on 01/13/2015 ( 6 moms have responded )

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I was wondering if there are any moms that have a daughter with this form of turners mosaic and if so what have been their health problems. I was told by her geneticist that she is not missing that x, it is misplaced(47xxx) an says this is much more milder. She has it very mild, the only way I even discovered she had it was due to sleeping issues she had and genetic testing was the last series of testing we did. Besides her sleep issues, she has sensory processing issues, she is 18 months now and seems to be doing better. She was walking by 16 months and was wondering if any moms could tell me what their developemental milestones have been. Thank you for any of your experiences you can share.

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Michelle - posted on 01/23/2015

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Thanks so much for responding. Is there any way that you would be able to call me so we can talk in further detail. I have spoken to other moms with children who have genetic disorders, but none with turners syndrome. When I first was told her diagnosis, it crushed me and nearly killed me. I had never heard of it before and the more research I did, it just scared me more. My daughter as well has no organ abnormalities or defects. She was under the 5th percentile for weight and height for a long time. She is now in the 25th percentile. The only issue I am noticing as far as vision goes is that when objects are close up, her, eyes seem to get out of focus. Anyways I would love to be able to speak to you and get your experience and insight in order to know what are some possible things I may have to go through with my daughter. My number is 321-208-4675. Thanks for your support.

Christy - posted on 01/23/2015

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Hi. My daughter was diagnosed with mosaic 45x/47xxx through an amnio test. Sixteen cells were tested with 9 being 45x and the rest 45xxx. We havent had any genetic testing done on her besides the amnio so we aren't sure what the true ratio is. She is almost 7 now. She has no phenotypical features and no organ abnormalities. She has been on track with her growth and development. Had I not had the amnio, we would never suspect anything. She has always been the type of kid that cant seem to sit still and it has effected her in school a little bit, however, who knows if this is related to Turners or if it is just her personality. We are coasting along just fin right not. The next milestone will be when she reaches puberty. At that thime we will know if her ovaries develop normally. I hope this helps. Hang in there.

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Vane - posted on 09/15/2016

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Hi Christy, I was wondering how your daughter is doing? and has she developed any "turner" symptoms? I am 18wks pregnant and my daughter was diagnosed with mosaic turner (45/x,47xxx). I'm scared because I don't know what to expect, and although it's supposed to be the "milder" side of turners, there are so many uncertainties... My husband and I are so stressed.

Bingerchanovsky - posted on 04/07/2016

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Hi, we just found out our daughter has this type of turners as well. She is 9. The onlyonly issues so far have been with short stature, which she is started on growth hormones, she has poor vision and nystagmus, and a bicuspid aortic valve. She also has abnormal toe nails. Other than that she is healthy. We dont kniw yet about puberty or development, or if she will be fertile but we have our fingers crossed.

Natali - posted on 12/23/2015

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Hello, my daughter was also diagnosed with turners 45x 47xxx this year.
She just turned 11 years old and so far the only issues she presented is her short statue (she started growth hormones a couple of months ago)and her vision. Fertility is something that is going to be an issue. We had some blood work done about 3 weeks ago and her egg reserve is already low. So far that is the hardest part of her turners. I would love to hear from other moms as well. ..

Michelle - posted on 02/03/2015

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Christy,
I just wanted to check and see if you got my response to your message. I appreciate you sharing your experience with me. Please let me know. I would love to be able to talk to you over the phone.

Thanks,
Michelle

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