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How is Turner Syndrome diagnosed?

See how Turner Syndrome is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Turner Syndrome

Turner Syndrome diagnosis
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Le syndrome de Turner peut être suspecté à la période prénatale à partir de signes échographiques ou dès la naissance chez un nouveau-né qui présente de nombreux signes évocateurs. Cependant, c’est dans l’enfance ou l’adolescence que le diagnostic est le plus souvent
posé. La petite taille de l’enfant ou l’absence de règles sont les principales circonstances
de découverte.
Suspecté cliniquement, le diagnostic de certitude repose sur « l’étude cytogénétique » ou
caryotype. Cette technique permet de déterminer le nombre exact de chromosomes et
leur structure. Dans 55% des cas, le chromosome X manque en entier (le caryotype s’écrit
45,X). Dans 20% des cas il s’agit d’une mosaïque (il existe des cellules 45,X et des cellules
normales 46,XX, ou encore des cellules présentant d’autres anomalies). Dans les 25% des
cas restants, les deux chromosomes X sont présents mais l’un des deux est altéré (présente
une délétion ou une autre anomalie).

Posted Jul 24, 2019 by Association "Turner et vous"

Turner Syndrome diagnosis

Turner Syndrome life expectancy

What is the life expectancy of someone with Turner Syndrome?

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Celebrities with Turner Syndrome

Celebrities with Turner Syndrome

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Is Turner Syndrome contagious?

Is Turner Syndrome contagious?

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Is Turner Syndrome hereditary?

Is Turner Syndrome hereditary?

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ICD9 and ICD10 codes of Turner Syndrome

ICD10 code of Turner Syndrome and ICD9 code

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Natural treatment of Turner Syndrome

Is there any natural treatment for Turner Syndrome?

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Living with Turner Syndrome

Living with Turner Syndrome. How to live with Turner Syndrome?

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History of Turner Syndrome

What is the history of Turner Syndrome?

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World map of Turner Syndrome

Find people with Turner Syndrome through the map. Connect with them and share experiences. Join the Turner Syndrome community.

Stories of Turner Syndrome

TURNER SYNDROME STORIES
Turner Syndrome stories
Diagnosis of TS around 3yrs old, Growth hormone injections for 10+ years. I had an EKG in 2008 which showed no signs for concern. I haven't had steady or good insurance so I haven't been able to follow up with the endocrinologist. The hardest part o...
Turner Syndrome stories
The dr that delivered me picked up something was wrong and my parents were referred to a paediatrician when I was 3 months old. A karyotype confirmed Turner's Syndrome I had failure to thrive which was resolved (obviously). As I grew I had many ear a...
Turner Syndrome stories
My name is Alyssa and I was dignosed in 2012 or  2013 at the age of 16 i am now 20 and my family  always knowen there was a problem and we found out when i went to see a pediatrician and her studnet picked up on it when we told him my simptoms ex:n...
Turner Syndrome stories
I was dignosed at the age of 16. I have XO Turner's Syndrome. I can not have children, but I do have pets. I also have a BA and an MBA in Business Administration. I am married to a loving man and have a great job that I love. If you are reading this ...
Turner Syndrome stories
Diagnosed at 14 with mosaic TS. Community activist campbell county ts support

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Turner Syndrome forum

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