Turner syndrome

What is Turner syndrome?

Turner syndrome affects only females. 1 in every 2,000 females born is diagnosed with the syndrome.

This rare disease is characterized by a short stature, heart defects and a failure of the reproductive organs, specifically the ovaries to develop.

In some instances the syndrome is not diagnosed until puberty when these symptoms become apparent.

What gene changes cause Turner syndrome?

The syndrome occurs randomly when the female fetus is developing in the womb. Baby girls with the condition are born with only one normal X chromosome. The second x chromosome is missing or partially missing.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Turner syndrome?

Girls with Turner syndrome usually have a short stature. The main feature of the condition is underdeveloped ovaries which prevent individuals with the condition from having periods, and to the development of secondary sexual characteristics, leading to their infertility.

Congenital hydrops (accumulation of liquid in the neck and hands), and abnormal heart defect are two of the main features that can lead to the diagnosis before puberty.

How does someone get tested for Turner syndrome?

The initial testing for Turner syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

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