CURSO:
EMBRIOLOGÍA
TEMA:
ESTUDIO GENÉTICO: CUANDO Y PORQUÉ SOLICITARLO
ALUMNOS:
CERVERA VARÍAS CRISTHIAN LA TORRE GALVEZ GALVEZ CRISTHIAN GOMEZ ECHEANDIA SOFIA PANTA QUEZADA, KRISTELL VELÁSQUEZ MONTENEGRO ÁNGELA
Introducción:
Dese !"#$e%&"s e '( )*#(%$(, e' )"#+e s$e#-e )( es.(" -e"!*-(" -" !"%"!e '"s /e%0#e%"s 1*e $%!$e% e% '( .(%s#$s$0% e '(s !((!.e2s.$!(s 1*e $e%.$/$!(% ( '"s es!e%$e%.es e *%( 3e%e(!$0% ( ".( !"#" e' !"'" e '"s "4"s, e' -e'", '( -$e', e' .(#(5", '"s -"+'e#(s e '( .(%s#$s$0% e e%/e#e(es )ee$.($(s, '( !"%/"#(!$0% e '(s $/ee%.es (&(s 6 s*s !*!es .(%." e% )*#(%"s !"#" e% -'(%.(s 6 (%$#('es, e' es("''" e '2%e(s -*(s, '( -"-(3(!$0% e '(s -'(%.(s 6 '(s #*.(!$"%es 6 e' #e4"(#$e%."7 es."s (s-e!."s, e%.e "."s %" se !"%s$e("% !"#" .(' ese *% -$%!$-$", s"'" )(s.( e' (5" 89; !*(%" Ge3"$" Me%e' <#"%4e A3*s.$%"=, es!*+$0 '"s -(."%es e '( )ee%!$( e% ."%" ( s$e.e !((!.e2s.$!(s 1*e (-(e!2(% e% s$e.e >($e(es $/ee%.es e' 3*$s(%.e7 "+se>" 1*e ?s."s !((!.ees se )ee(+(% e% /"#( $%e-e%$e%.e 6 e.e#$%0 1*e !(( -"3e%$." .$e%e -(es e *%$(es -e" 1*e s"'" (-".( *%( ( !(( -(e4( e s* es!e%e%!$( <3e%es=@
E' es.*$" 3e%?.$!" !"%s$s.e e% *%( )$s."$( !'2%$!( $$3$(, *%( e-'"(!$0% !'2%$!( 3e%e(' 6 ".( es-e!2/$!( <es.$%(( ( '( >('"(!$0% e (s3"s $s#0/$!"s= 6 *%( se$e e e#e%es !"#-'e#e%.($"s es.$%((s (' $(3%0s.$!" 6 es.*$" e '(s e%/e#e(es 3e%?.$!(s@ E''" e.e#$%( *% !"%se4" 3e%?.$!", 1*e >('"(: 8= e' -"%0s.$!" e '( (/e!!$0%@ = '( 3(>e( 6 !"#-'$!(!$"%es e '( #$s#(@ = '(s -"s$+$'$(es e s*-e>$>e%!$( e' -(!$e%.e 1*e -(e!e '( e%/e#e(@ = e' #(%e4", se3*$#$e%." 6 .(.(#$e%." e' -(!$e%.e@ = '( e( e (-($!$0% e' .(s."%"@ = '(s -"s$+$'$(es e -"!e(!$0% e' (-(!$e%.e 6 e' 3(" e -e%e.(%!$( 6 e-es$>$(@
OBETIVOS
8@ C"%"!e '( /"#( e e('$&( *% !"e!." e(#e% !'$%$!" e )$s."$( !'$%$!( 6 !"%s.*!!$0% e' -e$3ee<(+"' 3e%e('3$!"=
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8@ E.(-(s -(( '( e('$&(!$0% e' es.*$" 3e%?.$!": HISTORIA CLINICA Y CONSTRUCCIN DEL PEDIGREEJ@ A%.es e !"#e%&( ( e('$&( '( )$s."$( !'2%$!( es #*6 $#-".(%.e $s-"%e e '"s $%/"#es 1*e .$e%e e' -(!$e%.e " "."s #$e#+"s e '( /(#$'$( (/e!.("s@ E' -(!$e%.e (/e!.(" se e%"#$%( -"+(%"@ De+e "+.e%ese *%( )$s."$( !'2%$!( e' -"+(%" 6 e ."" (1*e' /(#$'$( 1*e es.? (/e!."@ L( /"#( #s -!.$!( e e!"3e '( )$s."$( /(#$'$( es '( !"%s.*!!$0% e -e$3ee " (+0' 3e%e('03$!"@ E' -e$3ee, es s$#-'e#e%.e *% $(3(#( es1*e#.$!" e '( /(#$'$( 1*e %"s -"-"!$"%( e /"#( 3/$!( '( e'(!$0% e%.e '"s $/ee%.es #$e#+"s e '( /(#$'$( 6 *% es*#e% +e>e e ('3*%(s e%/e#e(es 1*e -"2(% .e%e *% s$3%$/$!(" 3e%?.$!"@ L( >e%.(4( -$%!$-(' e' -e$3ee es s* $%.e-e.(!$0% /!$' 6 s* /"#(." !"#-(!."@ S* #(6" $%!"%>e%$e%.e es '( !"%/*s$0% ( 1*e -*ee ( '*3( -" *.$'$&( s2#+"'"s, 1*e e+e% se *%$>es('#e%.e (#$.$"s@ T(s '( e('$&(!$0% e' +"' /(#$'$( es %e!es($" !"#-'e.( '( )$s."$( /(#$'$(@ De+e se3*$se *%( s$s.e#.$!( "e%((, -(( e>$.( "'>$"s 1*e -*ee% se $#-".(%.es -(( e' $(3%0s.$!" 6 -"s.e$" !"%se4" 3e%?.$!"@ EAMEN CLINICO: EPLORACIN FISICA: U%( >e& 1*e )e#"s e('$&(" '( )$s."$( !'2%$!(, e' -(s" s$3*$e%.e e+e se *%( e-'"(!$0% /2s$!( !"#-'e.(@ L( e-'"(!$0% e+e se es.$!.(#e%.e "e%((@ A*%1*e ."( e-'"(!$0% /2s$!( e% #e$!$%( e+e se e('$&(( e #(%e( "e%((, e% $s#"/"'"32( e+e se'" ."(>2( #s@ E% se3*%" '*3(, es.( e-'"(!$0%, (e#s e '( )(+$.*(' e+e $ (!"#-(5(( e *%( e/$%$!$0% -e!$s( e -"s$+'es (s3"s $s#0/$!"s <1*e s"% (1*e''(s !((!.e2s.$!(s /2s$!(s 1*e %" es.% e%." e' (%3" %"#(' e '"s $%$>$*"s@ P" *'.$#", '( $#-es$0% !'2%$!( <(."s !*('$.(.$>"s= e+e se !"#-"+(( -" *%( se$e e #e$(s (%."-"#?.$!(s, 1*e -"s.e$"#e%.e s"% >('"((s se3% .(+'(s e -e!e%.$'es@ E' (%3" %"#(' e !(( #e$(, >(2( !"% '( e( 6 se"@ H(+$.*('#e%.e ."(s '(s #e$(s es.% (-"$#((#e%.e s$.*((s e% e' #$s#" -e!e%.$'@ C*(%" es." %" es (s2, s$3%$/$!( 1*e es( #e$( -*ee $%$!( *%( (%"#('2(@ P" e4e#-'", s$ '( ('.*( 6 e' -e2#e." !e/'$!" es.% s$.*((s e% e' -e!e%.$' 8;, -e" '( $s.(%!$( $%.e-*-$'( es. s$.*(( e% e' -e!e%.$' ;, -"e#"s e!$ 1*e e$s.e *% )$-e.e'"$s#" e'(.$>", (*%1*e '( #e$( (!.*(' e es( $s.(%!$( $%.e-*-$'( es.e e%." e' (%3" %"#('@
Valoración de la historia familiar:
Es."s s"% '"s -*%."s 1*e se e+e% e >('"( e% '( )$s."$( /(#$'$(: ! "istoria #arental:
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E( e '"s -(es (' #"#e%." e '( !"%!e-!$0%@ O!*-(!$0% 6 )+$."s e '"s -(es@ S('* 3e%e(' e '"s -(es@ H$s."$( 6 e>"'*!$0% e e#+((&"s (%.e$"es@
$! "istoria %estacional:
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F(!."es #(.e%"s@ F(!."es /e.('es@
&! 'arto:
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Es.(" %e"%(.('@ A'$#e%.(!$0%@ G(%(%!$( -"%e('@ S$3%"s %e*"'03$!"s e ('e.(@ O'"es es-e!$('es e '( "$%(@ I%/e!!$"%es@
)! "istoria e*oluti*a del #aciente:
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S('* 3e%e('@ Ce!$#$e%." 6 es("''": F2s$!" 6 #"."@ C"#-".(#$e%."@ Pes"%('$(@
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Si%nos + s,ntomas
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-oto%raf,as
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E./menes com#lementarios
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Carioti#o 0con*encional + de alta resolución1
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&!&!$! An/lisis 2io3u,micos 0san%re + orina1
P(( e!"3e *%( #*es.( -(( e('$&( !($".$-" se %e!es$.(% !! e s(%3e <-e$/?$!( " e !"(&0% e% !(s"s e /e."s #*e."s= e% *% .*+" !"% )e-($%( '$.$"@ S$ .e%e#"s 1*e e#$.$ '( #*es.( ( "." !e%.", se e+e e%>$( ( .e#-e(.*( (#+$e%.e -(( 1*e ''e3*e (' es.$%" 6 -*e( se !*'.$>(( e% 9 )"(s@ S$ se %e!es$.( #*es.( -(( es.*$" !"#"s0#$!" e .e4$"s <-(( es!(.( #"s($!$s#"s=, e+e% "+.e%ese (' #e%"s ## e -$e' 1*e e+e% !"'"!(se e% *% #e$" es-e!$(' -(( .e4$"s@ &!&!&! Estudios moleculares de A4N
L"s es.*$"s e 3e%?.$!( #"'e!*'( e+e% se !"%s$e("s s"+e ."" e% e%/e#e(es #"%"3?%$!(s, e%/e#e(es #*'.$/(!."$('es 6 e%/e#e(es #$."!"%$('es@ E% #*!)(s "!(s$"%es es $#-".(%.e "+.e%e e' ADN e e.e#$%("s -(!$e%.es 6 ('#(!e%('" -(( -"e e('$&( es.*$"s e% *% /*.*", s"+e ."" (%.e -(!$e%.es /(''e!$"s !"% s"s-e!)( e .(s."%"s 3e%?.$!"s %" e/$%$"s, .('es !"#" ('3*%(s $s-'(s$(s 0se(s, !*6" .(s."%" 3e%?.$!" %" es.? -e!$s("@
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Estudios en5im/ticos6 histoló%icos6 eco%r/ficos6 etc!
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ETAPAS Y DESARROLLO
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INDICACIONES L"s -$%!$-('es #".$>"s -" '"s 1*e se s"'$!$.( (ses"(#$e%." 3e%?.$!" s"%:
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CONCLUSIONES
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