June 8, 2023

Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa)

Fragile X Syndrome (FXS) is the most common monogenic X-linked condition which causes variable degrees of Intellectual Disability (ID), autism spectrum disorder (ASD), delay in acquisition of speech and other cognitive skills; affecting one in 7143 males and one in 11,111 females [1–5]. Some individuals with FXS may present characteristics of facial appearance such as, a large forehead and prominent ears.