SEMINARIO 9 EMBRIOLOGIA

May 16, 2019 | Author: Kristell Quezada | Category: Genetic Counseling, Miscarriage, Cytogenetics, Medical Diagnosis, Karyotype
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estudio citogenetico cuando y porque realizarlo...

Description

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:

Dese !"#$e%&"s e '( )*#(%$(, e' )"#+e s$e#-e )( es.(" -e"!*-(" -"  !"%"!e '"s /e%0#e%"s 1*e $%!$e% e% '( .(%s#$s$0% e '(s !((!.e2s.$!(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$0% e e%/e#e(es )ee$.($(s, '( !"%/"#(!$0% e '(s $/ee%.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("% !"#" .(' ese *%  -$%!$-$", s"'" )(s.( e' (5" 89; !*(%" Ge3"$" Me%e' ($e(es $/ee%.es e' 3*$s(%.e7 "+se>" 1*e ?s."s !((!.ees se )ee(+(% 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%!$( ('"(!$0% e (s3"s $s#0/$!"s= 6 *%( se$e e e#e%es !"#-'e#e%.($"s es.$%((s (' $(3%0s.$!" 6 es.*$" e '(s e%/e#e(es 3e%?.$!([email protected]  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%[email protected]  = '( e( e (-($!$0% e' .(s."%"@ = '(s -"s$+$'$(es e -"!e(!$0% e' (-(!$e%.e 6 e' 3(" e -e%e.(%!$( 6 e-es$>$(@

OBETIVOS

[email protected] C"%"!e '( /"#( e e('$&( *% !"e!." e(#e% !'$%$!" e )$s."$( !'$%$!( 6 !"%s.*!!$0% e' -e$3eees('#e%.e (#$.$"[email protected] T(s '( e('$&(!$0% e' +"' /(#$'$( es %e!es($" !"#-'e.( '( )$s."$( /(#$'$(@ De+e se3*$se *%( s$s.e#.$!( "e%((, -(( e>$.( "'>$"s 1*e -*ee% se  $#-".(%.es -(( e' $(3%0s.$!" 6 -"s.e$" !"%se4" 3e%?.$!"@ EAMEN CLINICO:  EPLORACIN FISICA: U%( >e& 1*e )e#"s e('$&(" '( )$s."$( !'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( #[email protected] 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 $*"[email protected] P" *'.$#", '( $#-es$0% !'2%$!( ('"((s se3% .(+'(s e -e!e%.$'[email protected] E' (%3" %"#(' e !(( #e$(, >(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$3%$/$!( 1*e es( #e$( -*ee $%$!( *%( (%"#('2(@ P" e4e#-'", s$ '( ('.*( 6 e' -e2#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:

-

E( e '"s -(es (' #"#e%." e '( !"%!e-!$0%@ O!*-(!$0% 6 )+$."s e '"s -([email protected] S('* 3e%e(' e '"s -([email protected] H$s."$( 6 e>"'*!$0% e e#+((&"s (%.e$"[email protected]

$! "istoria %estacional:

-

F(!."es #(.e%"[email protected] F(!."es /e.('[email protected]

&! 'arto:

-

T(+(4" e -(.", *(!$0%, $s."!$([email protected] S*/$#$e%." /e.(', e(%$#(!$0%, .es. e (-3(@

(! 'eriodo neonatal:

-

Es.(" %e"%(.('@ A'$#e%.(!$0%@ G(%(%!$( -"%e('@ S$3%"s %e*"'03$!"s e ('e.(@ O'"es es-e!$('es e '( "$%(@ I%/e!!$"%[email protected]

)! "istoria e*oluti*a del #aciente:

-

S('* 3e%e('@ Ce!$#$e%." 6 es("''": F2s$!" 6 #"."@ C"#-".(#$e%."@ Pes"%('$(@

@ I%$!(!$"%es -(( e' es.*$" !$."3e%?.$!": E' es.*$" 3e%?.$!" !"%s$s.e e% *%( )$s."$( !'2%$!( $$3$(, *%( e-'"(!$0% !'2%$!( 3e%e(' $e%!$( ('.e(!$"%es !"#"s0#$!(s 1*e -*ee% se )ee((s " %", (-".(%" $%/"#(!$0% -(( /*.*"s e#+((&"[email protected] E' es.*$" !$."3e%?.$!( es. $%$!(" e% '"s -(e%.('es !"% "s " #s (+"."s es-"%.%e"s, 6( 1*e -"2(% se -".("es e .(%s'"!(!$0%7 s$ es -"s$+'e, es.

e!"#e%(" )(!e e' !($".$-" /e.(' e es."s (+"."[email protected] @ D$(3%0s.$!": C*(%" .e#$%(#"s !"% '( e-'"(!$0% /2s$!( e+e#"s .e%e -ese%.e $>es(s !"%s$e(!$"%[email protected] E% -(!$e%.es !"% (s3"s $s#0/$!"s #'.$-'es es %e!es($" !"%s$e(  *% s2%"#[email protected] U% s2%"#e es '( "!*e%!$( %" (' (&( e% *% #$s#" $%$>$*" e  " #s (%"#('2(s 1*e es.% e'(!$"%((s e.%"'03$!(#e%[email protected] L( #(6"2( e '"s s2%"#es .$e%e% #*!)"s )(''(&3"s, ('3*%"s e '"s !*('es s"% -(."3%"#0%$!"s ('*("s  -e$0$!(#e%[email protected] L( )$s."$( !'2%$!( 6 '( e-'"(!$0% /2s$!( -*ee% $%$!(%"s *% $(3%0s.$!" " '( %e!es$( e e-'"(!$"%es !"#-'e#e%.($([email protected] A >e!es -" '( )$s."$( !'2%$!( 6 '( e-'"(!$0% /2s$!( -"e#"s .e%e 6( *%( "$e%.(!$0% $(3%0s.$!(@ E% "!(s$"%es -*ee se e *.$'$( '( e-'"(!$0% /2s$!( e e.e#$%("s #$e#+"s e '( /(#$'$( e'  -(!$e%[email protected] O.(s >e!es, '"s $%$>$*"s (/e!.("s )(% /(''e!$" " %" -*ee% se e>('*("[email protected] P" e''" s$e#-e e+e#"s $%.e%.( 1*e '( /(#$'$( (-".e $%/"#(!$0% ($!$"%(' !"% $%/"#es e $>es"s es-e!$('$s.(s " !"%se3*$ $%/"#(!$0% e )$s."$(s !'2%$!(s e !e%."s )"s-$.('($"s "%e e' -(!$e%.e /*e >('"(" -e>$(#e%[email protected] &!!

Si%nos + s,ntomas

H(6 "s )e!)"s /*%(#e%.('es 1*e e+e#"s !"%s$e( s$e#-e e% e' $(3%0s.$!" ese e' -*%." e >$s.( !'2%$!"@ E' -$#e", es !"%"!e !*'es s"% '"s s$3%"s 6 s2%."#(s 3*2(s "

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E./menes com#lementarios

P(( e' $(3%0s.$!" %e!es$.(#"s e% #*!)(s "!(s$"%es !"%s*'.( !"% e.e#$%("s es-e!$('$s.(s, .('es !"#" !($0'"3"s, ($0'"3"s, e%"!$%0'"3"s, [email protected] Fe!*e%.e#e%.e, %e!es$.(#"s e.e#$%((s e-'"(!$"%es !"#-'e#e%.($(s !"#" !"#e%.(#"s (%.e$"#e%[email protected] Es."s $%!'*6e% !($".$-" e% s(%3e 6 "."s .e4$"s, (%'$s$s +$"1*2#$!"s e s(%3e 6 "$%( 6 e !*'.$>"s !e'*'(es, es.*$"s ($"'03$!"s, es.*$"s #"'e!*'(es, [email protected]

&!&!!

Carioti#o 0con*encional + de alta resolución1

L(s (%"#('2(s !"#"s0#$!(s -*ee% se '(s es-"%s(+'es e (s3"s $s#0/$!"s 6 $>es(s #('/"#(!$"%[email protected] P" es.e #".$>" e+e#"s e('$&( *% !($".$-" s$ es.(s (%"#('2(s es.% -ese%.es, s"+e ."" s$ se (!"#-(5(% e e.(s" #e%.('@ Es $#-".(%.e e!"( 1*e %*es.( !(-(!$( -(( $e%.$/$!( ('.e(!$"%es !"#"s0#$!(s es.*!.*('es e-e%e e' es("''" .e!%"'03$!"@ As2, )(!e *%"s (5"s s"'" $s-"%2(#"s e' +(%e" !"#"s0#$!" !"% *% %$>e' $%/e$" ( ;; +(%([email protected]  H(!e *%"s (5"s, !"% '( -"s$+$'$( e e('$&( es.*$"s !"#"s0#$!"s -"#e.(/s$!"s, (*#e%." e' %$>e' e +(%(s, -*$e%" e('$&(se !($".$-"s !"% #s e 9;; +(%([email protected] E% '( (!.*('$( '(s .?!%$!(s e !$."3e%?.$!( #"'e!*'( %"s -e#$.e% e!"%"!e  #$!"e'e!$"%es !"#"s0#$!(s 1*e %" se -*ee% e('$&( !"% '(s .?!%$!(s e +(%e" e ('.( es"'*!$0%@ P" ."" e''", (%.e *% %$5" !"% e/e!."s !"%3?%$."s, )(6 1*e e('$&(  s$e#-e *% !($".$-" !"% +(%(s e ('.( es"'*!$0% $( ( .e#-e(.*( (#+$e%.e -(( 1*e ''e3*e (' es.$%" 6 -*e( se !*'.$>(( e% 9  )"([email protected] S$ se %e!es$.( #*es.( -(( es.*$" !"#"s0#$!" e .e4$"s (" ( !(+" -" -es"%(' !"% /"#(!$0% 6 !*('$/$!(!$0% !"#-e.e%.e 6 s*/$!$e%.e e% e' #+$." e !"%"!$#$e%."s ( 1*e >$e%e e/e$", %" s0'" es.$!.(#e%.e !'2%$!"s, s$%" .(#+$?% -s$!"'03$!"s, ?.$!"s 6 s"!$('[email protected] D*(%.e e' -"!es" e (ses"(#$e%." 3e%?.$!" e' -"/es$"%(' e+e (se3*(se e 1*e ('  -(!$e%.e 6" ( '( /(#$'$( se 'e -"-"!$"%( '( $%/"#(!$0% %e!es($( -((:     

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ETAPAS Y DESARROLLO

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