Jared Health Science PM Mendelian Research Paper 14 April 2014

Williams Syndrome
Williams Syndrome is a rare, ne rode!elopmental disorder ca sed "y a deletion o# a"o t 2$ %enes o# the &th chromosome' (his disorder is considered an a tosomal dominant condition, meanin% an indi!id al only needs to inherit the a##licted %enes #rom one parent' Most cases, tho %h, are not inherited and occ r as random e!ents d rin% the de!elopment o# reprod cti!e cells in a parent o# the o##sprin%' Research has theori)ed that the deletion o# these %enes acco nts #or the de!elopment o# the a"normal #eat res and the ni* e "eha!ioral characteristics' +ndi!id als ,ho are dia%nosed ,ith Williams Syndrome are most ,ell-.no,n #or ha!in% /el#in0 #acial #eat res' (hose a##licted are also characteri)ed "y ha!in% a !ery social and hi%hlyempathetic "eha!ior in addition to a lac. o# social inhi"ition' Physically, Williams Syndrome patients commonly ha!e cardio!asc lar and hearin% pro"lems' 1ia%nosis o# Williams Syndrome s ally "e%ins ,ith the !is ali)ation o# physical and "eha!ioral mar.ers' +# a physician s spects Williams Syndrome, one o# t,o tests ,ill "e %i!en-micro-array analysis or the #l orescent in sit hy"ridi)ation 23+SH4 test' A con#irmatory %enetics test is %i!en in order to corro"orate the physicians s pposition' (here is no treatment #or Williams Syndrome " t mana%in% ones health and addressin% symptomatic pro"lems ,hen they arise ,ill help control the disorder' M sic has also "een tested to calm indi!id als ,ith Williams Syndrome ,hen "eha!ioral iss es "ecome pro"lematic' (hose li!in% ,ith Williams Syndrome ha!e "een recorded to li!e p into their $0s, healthy and li!ely'

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