Apert Syndrome :: essays research papers fc

Apert Syndrome (AKA Alport syndrome) is a genetic defect which can be inherited from a parent who has Apert or a fresh mutation. It falls under the broad classification of craniofacial/limb anomalies. Approximately 1 per 160,000 to 200,000 persist births inherit it. Some symptoms that Apert sufferers subscribe are various heart defects, ear infections, severe acne, increased incidence of eye injuries, and many more. The skull is prematurely coalesced and unable to grow normally, and the fingers and toes are fused together in varying degrees.If your child gets Apert Syndrome they may have many visible defects as well as a few other problems much(prenominal) as slower learning, a cleft palate, vision problems, and problems with acne during puberty. I dont think Apert Syndrome children die, expecially because you can pass Apert through genetics. A child with Apert Syndrome could live a pretty normal life.The mutation which causes Apert Syndrome is found on chromosome number 10 cal led Fibroblast Growth Factor Receptor 2 (FGFR2). You have two copies of this gene, ace from the mother, one from the father, which is composed of a string of about 2000 of the chemical construction blocks that make up the genetic material called DNA. When Apert Syndrome occurs, just one particular building block in one of these two gene copies has been exchanged for another. The other gene is entirely normal. The one tiny change in FGFR2 results in the physical features of Apert Syndrome.There is no link between anything the mother does or doesnt do during her pregnancy to cause Apert. Doctors believe Apert Syndrome occurs when a gene mutates early in the pregnancy. The chances of having a second child with Apert are almost non-existent. However if one parent has Apert Syndrome there is a 50% chance that their child will excessively have Apert Syndrome. And studies have shown that Apert occurs more often to babies with older fathers.