13:28 29th August 2018 | Genetic Defects
Fragile X syndrome (FXS) is an inherited genetic disorder that may cause learning and behavioural challenges and is often characterised by large ears or a long face. It is caused by a mutation on the FMR1 gene on the X chromosome, which affects the production of a certain protein. An absence of this protein causes the characteristic symptoms of FXS.
08:37 30th July 2018 | Genetic Defects
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder which has many different effects on the body. It is due to the loss of specific genes, which is normally caused by the spontaneous loss of paternally inherited genetic material on chromosome 15.
09:39 17th April 2016 | Genetic Defects
Pre-implantation Genetic Screening (PGS) is arguably one of the most valuable developments in the assisted reproductive world. Essentially it is a means whereby chromosomal defects, which can cause a variety of diseases, can be detected at embryo stage. This is of particular value to couples who are at risk of passing on any of their genetic defects to their unborn child.
Before PGS, the only way to diagnose a defect was to perf...
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