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Las enlermedades Qen!|cas han vue|!O
a ser un !ema preQun!adO en e| MIR,pOr
|O que deOes es!ud|ar es!e apar!adO cOn
de!en|m|en!O. Las preQun!as de enlCr-
medades Qen!cas sue|en ser Oas!an!e
Qenera|es y se pueden cOn!es!ar cOn |Os
pr|nc|p|Os Qenera|es que veremOs en es!e
!ema, aunque !amO|n deOers es!ud|ar
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cuenc|a de| AN, que cOn||eva una |ec!ura
d|s!|n!a de| cd|QO Qen!|cO que prOvOca
un !ras!OrnO lunc|Ona|.
Una enlermedad Qen!|ca es aque||a que
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M Lx|s!en se|s mecan|smOs Os|cOs en e| Or|-
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Gen mu!an!e un|cO (mOnOQn|cas), pO-
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IOMOOOMOS
U|I1It|01M|B
M Tema pOcO ren!aO|e. L|m|!a!e a |Os as-
pec!Os esenc|a|es y |a!e en |as hQuras.
Un|camen!e ha s|dO preQun!adO en una
Ocas|n.
M E1t|I[|)
Lx|s!en casOs de !ras|Ocac|n rOOer!sOnta-
na cOn CnO!|pO nOrma| y QenO!|pO de 45
crOmOsOmas (unO de e||Os dOO|e), cuya
descendenc|a puede dar Or|Qen a !r|sOmlas
lOwn). POr e||O se rea||Zan es!ud|Os de ca-
r|O!|pO pa!ernO y ma!ernO.
Las aneup|O|d|as sOn anOma||as crOmOs-
m|cas numr|cas en |as que e| numerO de
crOmOsOmas nO es e| eup|O|de (4) y nO es
mu|!|p|O de 23. S| sOn anOma||as mu|!|p|O
de 23, se denOm|nar|an pO||p|O|d|a. Las !r|-
sOm|as sOn |as aneup|O|d|as ms lrecuen-
!es de |a espec|e humana.
M La ms lrecuen!e es |a !r|sOm|a de| T, s|O
v|s!a en aOOr!Os espOn!neOs.
La ms recuen!e en |a c|ln|ca es e| s|ndrO-
me de Own, !r|sOmla de| 2T, n|ca !r|sO-
mla que a|canZa |a e!apa adu|!a.
M O!ras !r|sOm|as, aparIe de| Own, v|s!as en
|a c|ln|ca ser|an |a !r|sOmla de| T 3 (sndrOme
de Pa!au) y de| \d (slndrOme de Ldwards),
que DO sue|en ||eQar a| aO de v|da, y |as de
|Os crOmOsOmas sexua|es.
M L| slndrOme de Own cOmO pr|mera causa
de re!rasO men!a| y |a seQunda, e| s|ndrO-
me de X rQ|| (pr|mera causa de re!rasO
||QadO a| sexO).
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b l b D|dZC CC|IC OE| C|C0CSC0d D, QUE C||Q||d E| S||
O|C0E OE| 0dU| | | OC OE QdIC.
up||cac|n. |EEI|C|C| OE U| SEQ0E|IC C|C0CSC0|
CC.
l nvers|n. ||VE|S|C| C Cd0D|C OE SE|I|OC OE U| SEQ
0E|IC C|C0CSC0|CC.
1ranspOs|c|n. O| SEQ0E|IC OE|EC|C|dOC OE U| C|C0C
SC0d SE I|dS|dOd d CI|d CS|C|C|, D|E| OE|I|C OE| |C|C
C|C0CSC0d C d CI|C O|SI||IC. L| E| l b OE | dS OE|EC|C|ES,
E| |dQ0E|IC SE I|dSC|E E| CI|C C|C0CSC0d, E| CC|IE||
OC QE|I|CC OE |d C| U| d ES E| 0| S0C, C| |C QUE |C SUE|E
dECId| d| ||O|V|OUC OC|OE SE |ESE|Id ||EC|OE|d0|E|\C
Dd| d|CEdOC C EQU| | | D|dOC) E|C, d| SEd|d|SE |CS C|C0C
SC0dS E| |d 0E|CS|S, U|CS Qd0EICS | |EVd| E| C|C0CSC0d
OE|ECIdOC y CI|CS E| QUE I|E|E E| |dQ0E|IC dGdO|OC, |C
QUE C||Q| |d|d QUE, E| |d OESCE|OE|C|d, dd|EZCd| 0C|C
SC0|dS C I||SC0|dS d|C|d|ES.
ras| Ocac|n. bE |COUCE U|d OE|EC|C| E| OCS C|C0C
SC0dS, y E| |d |Ed|dC|C| SE ||IE|Cd0D| d| | CS SEQ0E|ICS.
bE |d OE|C0| |d Id0D|| I|dS |CCdC|C| Dd| d|CEdOd C |EC|
|CCd. Ld |C0E|C|dIU|d OE |dS I|dS|CCdC|C|ES CC|S|SIE E|.
|d |EI|d I, y E|I|E d||IES|S, |CS C|C0CSC0dS | 0| | CdOCS
C| C|OE| |U0||CC, SEd|dOCS C| U|IC y CC0d. |C|
EE0|C, | d I|dS|CCdC|C| o J OE| | | |C0d OE OU|K|II SE
| |O|Cd||d dS| I|o, l ).
\rOmOsOmas d|c6n\r|cOs. LS U|d I|dS|CCdC|C| C I|d|S
CS|C|C| E| | d QUE E| SEQ0E|IC I|dS|CCdOC | |EVd CE|I|C
0E|C, C| Id|IC, E| |UEVC C|C0CSC0d IE|O|d OCS CE|
I|C0E|CS.
LrOmOsOmas en an|||O. bE |COUCE U|d OE|EC|C| E| |CS
OCS ClCS OE U| C|C0CSC0d y E| | d |Ed|dC|C| SE E0d|
0d| d0DCS EXI|E0CS.
lsOcrOmOsOmas. |E|EC|C| OE U| D|dZC y OU||CdC|C|
OE| CI|C, Od|OC |UQd| d C|C0CSC0dS CC| d0DCS D|dZCS
|O|I|CCS (M| K VVd|, d4).
KOIuras crOmOsm|cas. |dy CUdO|CS C||||CCS, OE HE|E|
C| d dUICSC0|Cd |ECES|Vd, E| |CS QUE SE CDSE|Vd| dDU|
Od|IES |CIU|dS C|C0CSC0|CdS, CC0C E| S||O|C0E OE
O|CC0, |d dIdX|dIE| d|Q|ECIdS|d y E| `XE|COE|0d | Q0E|
ICSU0, QUE, CC0C V| 0CS d|IE||C|0E|IE, SE OEDE| d U|d
|Ed|dC|C| OEECIUCSd OE | dS | ES| C|ES E| E| P||.
1ras|Ocac|n rOCer!sOn| ana. LS U|d S| IUdC| C| ||IE|
0EO|d E|I|E |dS d|C0d||dS |U0||CdS y ESI|UCU|d|ES. bE
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DORDfB. ODB!B5, BDBfRBOO COfODf,
f!fO5|5, B5UZOfBD|, 5CO55 RDCO
OBfB5V, BB5 . . . f!C|D O5!D!O5
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L DBfBDC R!OCODOf| O R!BfD 5OD
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5B !fD5R!B Lb 5U5 D|]O5f5. L5!O B5
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UBD Of! 5 OfgDB5 OB DUBVO 5Bf.
L]BRO OB BDBfRBOO. DBUfO! !|C
NH 07, 1 1 J
NH 0-07,24\
NH 98-99|,20
NH 97-98|,
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P|y1I M|B
NH 9-97,2T 8
NH 959,\ T 8
NH 9495,54
U0 U||1|t BpmI|r
NO D C5O5 CDCO5 fBfB5BD!!VO5
LHPa 0
LHI
U|I1It|01M|8
M 1ema muy p|eQun!adO en |as u|!|mas cOD-
vOca!Or|as pOr sus cOnnO!ac|ODes c|lD|cO-
!erapu!|cas. Ls qu|Z e| ms |mpO|!an!e
de la as|Qna!ura.
AptI0E1t|I[Q
Las c|ulas ma||Qnas surQeD de a|!e|ac|O-
nes Qen!|cas.
Se denOm|Da OncOQCD a| QeD que, a|I8|adO
O d|sreQu|adO, cOd|hca una prO!e|na capaZ
de mal|QD|Zar |a clu|a. Puede haOer ODcO-
Qenes dOm|naD!es (ma||QD|ZaD, auDque |a
cOp|a de su a|e|O sea nOrma|) y reces|vOs O
ac!Ores sup|esOres (DO ma||QD|ZaD, !uDc|O-
nan cOn una cOp|a sana).
La Oase Qen!|ca de |a mayO|la de s|Dd|O-
mes de cncer !am|||ar es |a mu!ac|n en |a
llnea Qe|m|nal de un alelO de un Qen sup|e-
sOr de !umOres e |Dac!|vac|D sOm!|ca del
seQuDdO a|e|O pOr aQen!es amO|eD!a|es.
Ll Qen d|ana que ms recuen!emeD!e se
a|!era eD |as neOplas|as humanas es e| p53
lel s|DdrOme de cncer !am|||ar que O||Q|na
se denOm|Da L| FraumeD|). La p|O!e|Da p53
es un s|s!ema de reparac|n de deec!Os en
el QenOma celula|. 5| |a repa|ac|D se !O|Da
|mpOs|Ole, p53 med|a |a apOp!Os|s ce|u|a|.
HO y,53 sOn Qenes que cOd|hcaD, pOr e||O,
l a sa||da del c|c|O ce|u|ar (OncOQeDes |ece-
s|vOs).
Src, Has, He|2 y Myc sOn Qenes que cOd|B-
can la eD!rada al c|c|O celu|a|.
Ll Her2 es d|aDa de d|ve|sOs |macOs u!|-
||ZadOs para e| !|a!am|en!O de| cDce| de
mama.
.\ . | 08000| 00M0
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y QUC CS |d |CSQC|SdD|C OC| lC|CI|QC 0d| | Q|C.
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CU|I|VC CC| U| dS O| Q| C|OCS, SCQU| Vd dU0C|Id|OC SU |U
0C|C CC||UyC| U|dS SCD|C CI|dS, y | | CQd U| 0C0C|IC C|
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CC| U| d|.
P CSC Q|CCCSC SC |C | | d0d | ||l D| C| O| QC| CC|IdCIC. LdS
CC| U| S I||SC|0OS CC|I| |U| C|CC|E|OC QC|QUE SC|
| |CdQdCCS OC | ||| D| | SU C|CC| 0| C|IC, dU|QUC CUD|d| ICOd
|d SUQC|HC|C.
P|ICldC|O| OC 0C0D|d|d. LCS Qd|Q| |OS|OCS OC | d 0C0
D|d|d CC|U|d| SC| OC CdOC|d 0dS CC|Id QUC | CS OC |dS
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CXQ|CS|O| OC 0C| CCU| dS I|Q|CdS OC CC| U| dS C0D|| C|d|| dS
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bU Q|CSC|C|d |C S| Q|| Cd QUC CX|SId U| IU0C|, dU|QUC
dyUOd 0UC|C Qd|d C|| C|Id| C| O| dQ|OSI|CC y 0CQd| U|
QdQC| C| C| SCQU| 0|C|IC (C. OCICCId| Q|CCCZ0C|IC 0|d
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Q|d|OC QUC QUCOC CV|OC|C|d|SC QC| ICC||CdS C|ICQC|CI|
7 ||00|8|6S 08|0800|6S d00|8|6S
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CdS y QUCOC| CDSC|Vd|SC CC0C dlIC|dC|C|CS Id|IC C| C|
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|CS QU|IUd| CS) CS |CCCSd||C |CCU|||| d ICC||CdS OC D|C|C
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d| QU|CS dUIC|CS CC|S|OC|d| CO0C 0| C0D|C OC | d d0| | |d
OC |CS |L|. || C|C dCIC| | |OUCC d | d C|0dC|O| OC VdSCS
Sd|QU||CCS, | C QUC QC|0|IC QUC C| IU0C| CSIC D| C| VdS
CU|d||ZdOC y SUS CC| U| dS |C SC |CC|CSC| QC| d|Id OC |U
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bC OC|C0| |d C|CCQC| d U| QC| QUC, CC0C CC|SCCUC|
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CCO| Cd U|d Q|CIC||d CdQdZ OC OCSC|CdOC|d| |d I|d|SlC|
0dC| O| 0d| | Q|d C| |d CC| U| d QC|IdOC|d OC CSC QC|. O|d
CC| U| d |C|0d| |C I| C|C C|CCQC|CS, IlC|C QC|CS OC CC|
I|C| OC| C| C| C CC| U| d|, CUd|OC UOC OC CSICS QC|CS SC d|IC|d
C SC OCS|CQU| d, CS CUd|OC QdSd d OC|C0| |d|SC C|CCQC|.
PIC|O| C|OC d| 0CCd|| S0C OC dCC|O| OC | dS Q|CIC||dS
QCl C||CS CCO|CdOdS, SC QUCOC C| dS| Cd| d CSICS QC|CS C|
CUdI|C Q|UQCS .
1 . LOn!rOl de la en!rada e c| cl O cel u|a|. Ld CX|SIC|
C|d OC U|d Q|CIC||d CCO|CdOd QC| U| C|CCQC| |d||d
QUC |d CC|U|d C|I|dSC C| C|C|C, S|| QUC |dO|C |C |UD|C
SC OdOC | d C|OC| Qd|d C||C, y U|d VCZ C|| Q| |dOdS OCS
CC| U| dS ||dS, VC|VC||d| d0DdS d C|I|d| C| C|C| C |S C|
0CCd|| S0C QC| C| QUC 0d| | Q||Zd| | dS Q|CIC||dS OC
|CS Q|| 0C|CS C|CCQC|CS OCSC||ICS, CC0C C| S|C. LC0
Q| CS. :rc, m:,Hc|2ymyc(M|H U4-Ub, 1 ) .
2. LOn!|O| de l a sal |da de| c|c|O cel ul ar. P |CS QC|CS
|C|0d|CS (|C d|IC|dOCS) QUC CCO|Cd| 0C|CCUldS
C|Cd|QdOdS OC OCS0C|Id| | d 0dQU| |d|| d OC O|V|S|O|
CC| U| d|, CUd|OC UC|C| OCSCUD|C|ICS SC |CS ||d0O d|
I| C|CCQC|CS |C|CCQC|CS |CCCS|VCS). LdS Q|CIC||dS
QUC CCO| Cd| SC| | CS dCIC|CS SUQ|CSC|CS. LC0Q| CS`
||y bo. LdS C|0dS QdIC| OQ|CdS OC | CS dCIC|CS SU
Q|CSC|CS SC| | |CdQdCCS OC | |OUC| | | d Sd||Od OC| C|C|C
CC| U| d|.
3. LOn!rOl de |a muer!e ce| ul ar rOQ|amada (aO-
!Os|s). Ld CC| U| d SC |CQd||d d SU|C|Od|SC, CUd|OC 0C|d
| |SIdOd d C| | C, QC| |dDC|SC OCICCIdOC CUd| QU| C| 0UId
C|O| C| | d 0| S0d. bC| QC|CS OC CSIC I|QC |c|2y |J:
0MKq00
168!|0u|0y08|0|0008068!|00
V8||0y60006!||0
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88!|0|0!68!|08|68
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V8||0y!68!|00l0
4. b|5lCD OC |C|COH OC |C5|OGC5 CG C| AUN b|
SC d| C|d| | OS |CCd || S|OS GC |Cd|dC| O|, CS 3C| |
uC Su|d| |udC| O|CS C| Cud| u|C|d GC | OS QC|CS
GC ' C |CS Q|uOS CSuG| dGOS d|C|| O||C|!C uC, d|
|O SC| |Cd|dGdS, | | Cvd| d | d C|C||CGdG GC |OGO
'3| GO
|OS O|COQC|CS uCGC| CO|O|d|SC GC |OGO GO||
|d|C O |CCCS|vO.
. LGCOQCGC5 OOD| GG\C5 ||OGuCC| |d|SO||d
C| O|, du|uC | d O|d CO| d GC| QC| CS6 |O||d| . buC
| C| COG| !Cd| 'O||dS d|O|d| dS ||| C|u|C| O|d|CS)
GC |OC||dS uC l || C| d| C| C|C| O CC| u| d|.
2. C\O|C5 5U|C5O|C5 (OGCOQCGC5 |CCC5VO5) |d|d
uC | |GuZCd| | d |d|SO||dC| O| CC| u| d|, CS |CC|SO
uC ldS GOS CO| dS GC| QC| CS6| d| !C|dGdS. b| CX| S
C u|d CO| d Sd|d, $C CO|O|d CO|O GO|| |d|C
y | d C|C||CGdG |O SC GCSd||O| | d. buC| C| COG| Cd|
|OC||dS Cuyd || S| O| CS SdCd| d | d C6| u| d GC| C| C| O
CC| u| d| y dSd|| d d C0
LCGC5 OC C\O|C5 5UlC5O|C5. bO| QC|CS | || | CdGOS
C| C| CO||O| GC Sd| | Gd GC| C| C| O CC| u| d|. HCCuC|Gd uC
d|O| 6| SC | CS CO|OCC CO|O d|| O|COQC|CS.
Lud|GO |O SC CX|CSd| O | O |dCC| GC O||d | |CHC| C|
C, GCd| GC CC|CC| C| CO||O| SOO|C G| C|O C| C| O, | | |
G| C|GO uC | d C6| u| d GCC C| C| C| O GC G| v| S| O| y vuC| vd
d Co. L|O|CCS, Cl C| C| O CC| u| d| SC vuC|vC | |CO||O| dGO.
Lud|GO CX|SC| | CS| O|CS C| C| FLl, b3 GC| C|C | d |d
u| |d|l d GC| C| C| O CC| u| d| C| | C|O |CCCSd|l O d|d uC
C| S| SC|d GC |Cd|dC| O| GC| FLl |Cd|C | OS GCCCOS. b|
C| Gd|O GC | dS |O| 6Cu| dS CS !d| | |!C|SO uC C| S| SC|d
CS | |CddZ GC |Cd|d|| O, b3 SC C|Cd|Qd GC C|| dZd| CO|
| d |du| |d|| d GC duOGCS|uCC| O| CC| u| d| ,dOOS| S)
|d 6|G | Gd GC u|C| O| GC b3 | | CG| |3 uC u|d C6| u
| d uCGd |Cd|d| Su FLN, CO| | O uC | |3 dCu|u| d|GO
|udC| O|CS, CS GCC| |, SC | |3 |dCl C|GO |3S d|d| 3S| Cd y
dQ|CS|vd, dGC|3S, SC|3 | OCddZ GC duOGCS|u| |SC
.4. h0|0008 00| 0d000|
|| C3|CC| |O SC |C|CGd C| C| SC|| GO C| 3S| CO (|C|GC| | d
|O |d dO|OQ|d O|CO| OQ| Cd uC |OS vd|OS d C|CO||d|
C| | d |3C|Cd |6G|Cd CS GC O||QC| dGu| ||GO, du|uC
uCGC| CX|S|| SlUdC|O|CS CO| u|d |CG|SOS|C|O| QC|6
| Cd. L| CdSO |CO| CSuG| dGO GC |C|C|C|d GC C3|CC| CS
C| GC| C3|CC| GC CO|O|, GO|GC SC |d CO||OOdGO uC,
dGC|3S GC| QC| |CG|SO|C|C, SO| |CCCSd||dS u|d SC||C
GC |udC|O|CS C| O|OS QC|CS uC |C|C| | uQd| d |O |d|QO
GC | d v| Gd, S| Qu| C|GO | dS |CyCS GC| dZd|. |d O||Cd G|C|C|C| d
C||C u| SuCO UC |CCGd C| QC| |CG|SO|C|C y O|O
|O||d| CS uC, C| C| || |C|O, C| Cd|| |O uC |C|C uC
|Cd| | Zd| u|d C6| u| d d|d | | CQd| d SC| |d| | Q|d CS |3S CO|O.
Ld 6|G|Gd GC 'u|C|O| GC | OS dCO|CS Su |CSO|CS |CC|Sd
| d d| C|dC|O| GC |OS GOS QC|CS S|udGOS C| d|OOS C!O|O
SO|dS |O|O| OQOS. LX|SC| SuCOS |CC|OC|QOOS uC
|C|CGd| GC SuS |OQC|lO|CS u| C|O|OSO|d CO| u|d
CO| d d|!C|dGd (O|COQ6| |CCCS|vO) y O|O CO| u|d CO|d
Sd|d. LSC O|||O SC CO|O|d GC |OGO GO|| |d|C, O|
| O uC |O |d||CSd|3| |d C|C||CGdG. L| CSOS SuCOS
CS |OOdO|C uC, SCQO| dvd|Zd| |OS d|OS, d| Qu|d GC SuS
C6| u| dS |C|Gd O |uC |d CO|d GC| QC| Sd|O y dSC d C
|C|, O| d|O, GOS O|COQC|CS LSC |O GC |CCd|| S|O
GC O|COQ6|CS| S d d|CCC, QC|C|d' |C|C, C| C|SO|dS GC
|3S GC b d|OS ,V| k0J04, 6\ ).
|d S| udC| O| GC |CC|OC|QOO SC |OGuC|3 C| d|| | |dS, y
C| C| | dS |dO|3 u|d d| d l|C| GC|Cld GC u|O|CS. L| |CCd
||S|O GC |C|C|C|d, du|uC dd|C|C|C|C GO|| |d|C,
C| |Cd| | GdG CS |CCCS|vO, C|O |OG|CdGO O| |d | |luC|C| d
GC| d|O|C|C ,| u3QC|OS u||| COS, |dG|dC|O|CS, CC)
b| |G|O|C GC || ||du|C|| . bC |dd GC| S||G|O|C GC C3|CC|
d| | | | d| |C|O| CO|OC|GO y SC GCOC d |d |C|C|C|d, C| |CC
|OC|QOS|S, GC u|d CO|d d|C|dGd GC| QC| GC b' ,C| |3S
|CCuC|C|C|C d'C|dGO C| dO|OQ|d u|O|d| lu|d|d)
S|udGO C| C| C|O|OSO|d ' 7 bC |dd GC 'd|| | | dS GO|GC
SO| |Uy '|CCuC|'CS | OS !u|O|CS, uGl C|GO dGCCC| u|
|| S|O ||G| v| GuO vd||OS u|O|CS G|C|C|CS d 'O |d|QO GC
| d v|Gd. |OS u|O|CS uC dGCCC| CO| |dyO| |CCuC|C| d
SO| | OS GC CO|O|, |d|d y |C| ,V|k0J-04, 2J7).
8000|8|08
0c|2, |as soo qeoes que cootto|ao .

apoptos|s, su a|tetac|oo tamb|eo acaba
eococet.
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oc|eo, oo eoveJeceo,se desd|teteoc|aoy
exptesaosustaoc|asques|tveopatasequ|-
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