47xxx/45x

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.

[Jordanna Joaquina, MS, CGC]

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.

[draaco]

A related discussion, 47xxx - infertile was started.

[paigeandree]

A related discussion, Trying to get pregnant and have a 45x gene was started.