Talk:BGDB Sexual Differentiation - Sex Determination
From Embryology
BGD Internal Links 2009 Male/Female Practical 1. Sex Determination
OMIM300624 - FRAGILE X MENTAL RETARDATION SYNDROME
- Fragile X mental retardation is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw. In most cases, the disorder is caused by the unstable expansion of a CGG repeat in the FMR1 gene and abnormal methylation, which results in suppression of FMR1 transcription and decreased protein levels in the brain (Devys et al., 1993).