What are the social ramifications for those afflicted with fragile x syndrome?
-the phenotypic characteristic for fragile x syndrome, if it is preventable, how?
-is fragile x syndrome fatal, when?
Social ramifications – all depends on the individual and how they are impacted by fragile x. Like autism fragile X is a spectrum disorder, some (mostly females) may have no social ramifications other than how they personally deal with knowing they carry a genetic disorder which may not come into play until they are much older. A female who might have limited symptoms may suffer from social anxiety, very much an introvert, very shy.
A child/adult with more severe symptoms anxiety, sensitivity to noise, light, strange environments, transitions may opt out of many community experiences, have a limited circle of friends.
Phenotype – Once again you must keep in mind it is a spectrum disorder not all will have the same characteristics, some may have none, some may have many. In addition, some of the features are common in many individuals who do not have fragile X, i.e. Long face, large protruding ears, Strabismus, Hands and feet manifest nonspecific findings, including hyper-extensible finger joints, hand calluses, double-jointed thumbs, a single palmar crease, and pes planus, dental overcrowding and a high-arched palate, macroorchidism in adult males.
Is it preventable – well yes if you know you have it you could choose not to have children or use PGD/IVF.
Is it fatal – no, individuals typically have a normal lifespan.
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