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Genetics (Expert Forum)
47xxx/45x
Answered by
AccessDNA
Welcome to the Genetics Forum! Questions in the Genetics Forum are being answered by genetic experts from AccessDNA. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.
This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
47xxx/45x
by Jnnlw, Oct 15, 2009 01:07PM
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.
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.
Doctor's Answer
by Jordanna Joaquina, MS, CGC, Nov 11, 2009 07:57PM
, Nov 11, 2009 07:57PMTo: Turner syndrome
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.
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