遺伝学および遺伝子治療ジャーナル

Apert Syndrome Due to Mutation of FGFR2 Gene (Fibroblast Growth Factor Receptor 2) – a Disorder of Advanced Paternal Age- a Case Report

Dr. Saswati Mukhopadhyay

The effects of advanced maternal age on off springs have been well studied and the best documented example is Down Syndrome. A small group of congenital disorders, called paternal age effect (PAE) disorders include Apert Syndrome, Crouzon Syndrome, Achondroplasia and Thanatophoric Dysplasia. They are associated with increased paternal age, relative to the general population. One such case of Apert Syndrome has been discussed in this article.