Paula and Bobby
Parents of Lillie
46,XY Sex Reversal 5; SRXY5
What is 46,XY Sex Reversal 5; SRXY5?
46,XY Sex Reversal 5; SRXY5 is a rare disease. It is also known as 46,xy Gonadal Dysgenesis, Complete, Cbx2-related 46,xy Sex Reversal, Cbx2-related Disorder Of Sex Development, 46,xy, Cbx2-related Sex Reversal, Xy, Cbx2-related.
* This information is courtesy of the L M D.
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What gene changes cause 46,XY Sex Reversal 5; SRXY5?
The syndrome is inherited in the following inheritance pattern/s:
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 that occurs during the reproductive process.
OMIM Number - 613080 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
CBX2 - 17q25.3
What are the main symptoms of 46,XY Sex Reversal 5; SRXY5?
The typical symptoms of the syndrome are:
Sex reversal, Autosomal dominant inheritance
How does someone get tested for 46,XY Sex Reversal 5; SRXY5?
The initial testing for 46,XY Sex Reversal 5; SRXY5 can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. 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.
What is FDNA Telehealth?
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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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