Talk:BGDB Sexual Differentiation - Sex Determination: Difference between revisions
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BGD Internal Links 2009 Male/Female Practical [http://embryology.med.unsw.edu.au/Medicine/BGDlabXYXX_1.htm 1. Sex Determination] | BGD Internal Links 2009 Male/Female Practical [http://embryology.med.unsw.edu.au/Medicine/BGDlabXYXX_1.htm 1. Sex Determination] | ||
[http://www.ncbi.nlm.nih.gov/omim/300624 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). | |||
Revision as of 10:06, 29 May 2011
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).
