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In page ATR-X syndrome:
"If ATR-X is suspected based on symptoms, diagnosis can be established via karyotyping (to rule out similar illnesses associated with chromosomal aberrations, with the expected karyotype 46,XY) and molecular genetic testing. The affected individual might have a de novo mutation in the ATRX gene or have inherited the pathogenic variant of ATRX from their mother. Female members of the same family will often be asked to partake in genome testing because of their potential heterozygous carrier status.[citation needed][1]
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