I am 14 weeks pregnant. CVS testing shows 47xxx/45x. 20 cells were tested. 13 showed 47xxx and 7 showed 45x. My genetics counselor said that is a rare form of mosaic Turner's, with 45x being Turner's and 47xxx being Triplo-X syndrome. She was not familiar with this disease and could not tell me how it commonly affect the person, or what I need to look out for. She was not sure if there are greater odd that the baby will have characteristics found more common in Triple X since there were more cells having that number. With my research, it seems to me that it doesn't matter how many number of cells are 47xxx, the baby will have mostly Turner's characteristics.
I am also wondering if the baby will have as much risk of developing autism as compared to a person with classic Turner's
Please help provide me with more info on this rare condition. THank you.
Due to the complexity of your reported CVS results, it is extremely difficult to predict characteristics. We recommend that you meet with a medical geneticist, who will be able to review your CVS results as well as discuss the benefits and limitations of additional testing, such as an amniocentesis. You can find a medical geneticist in your area at the American College of Medical Genetics website.
Copyright 1994-2018MedHelp.All rights reserved. MedHelp is a division of Vitals Consumer Services, LLC.
The Content on this Site is presented in a summary fashion, and is intended to be used for educational and entertainment purposes only. It is not intended to be and should not be interpreted as medical advice or a diagnosis of any health or fitness problem, condition or disease; or a recommendation for a specific test, doctor, care provider, procedure, treatment plan, product, or course of action. MedHelp is not a medical or healthcare provider and your use of this Site does not create a doctor / patient relationship. We disclaim all responsibility for the professional qualifications and licensing of, and services provided by, any physician or other health providers posting on or otherwise referred to on this Site and/or any Third Party Site. Never disregard the medical advice of your physician or health professional, or delay in seeking such advice, because of something you read on this Site. We offer this Site AS IS and without any warranties. By using this Site you agree to the following Terms and Conditions. If you think you may have a medical emergency, call your physician or 911 immediately.