Resources | For Families & Caregivers

BACKGROUND INFORMATION

SATB2-associated syndrome (SAS) is caused by alterations of the SATB2 gene. This gene is located in chromosome 2 at position q33.1 and produces a protein called SATB2.

To learn more about genetic terminology that would help you interpret your test results better:

There are no specific criteria outlined to be able to make the diagnosis of SATB2-associated syndrome (SAS). The diagnosis of SAS should be considered in anybody that has developmental delay with severely compromised or absent speech and that also has palatal and dental abnormalities. Genetic testing is needed to confirm the diagnosis of SAS.

For additional information about the different technologies used to make a genetic diagnosis of SAS, click the button below.

There are different ways the SATB2 gene can be affected but all resulting in similar medical and developmental problems. To learn more about the meaning of the different types of genetic alterations of the SATB2 gene, click the button below.