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7/30/2019 aneuploidi & euploidi
1/21
ew}`zf arnenzne 0
Nlgd
M`hfgl E`h`d`h
Ew}`zf arnenzne
Cnr mn{hln`m crgg
Sfzf} 9 m`hfglbfnlnkf(blnkzpn}(jne
7/30/2019 aneuploidi & euploidi
2/21
ew}`zf arnenzne 2
Gwplnfmf m`h @hgwplnfmfEw}`zf a`rgh` pgrwb`d`h Zg}arnenzneV`f}w pgrwb`d`h p`m` iwel`d h%hv`(
Mfbgm`a`h eghi`mf 9
7/30/2019 aneuploidi & euploidi
3/21
ew}`zf arnenzne :
GW_LNFMF
gw 5 bgh`r1 plnfm 5 whf}
Nrk`hfzeg gwplnfmf mf}`hm`f mghk`h
mfeflfafhv` zg} arnenzne v`hk
lghka`p
Ew}`zf arnenzne
S`rf`zf gwplnfmf9Enhnplnfm $h&]g}r`plnfm $=h&]rfplnfm $:h&_nlfplnfm $=h ag `}`z&
7/30/2019 aneuploidi & euploidi
4/21
ew}`zf arnenzne =
GW_LNFMF
Enhnplnfmf
E`zfhk%e`zfhk arnenzne }grm`p`}
m`l`e iwel`d }whkk`l $h&(
Agb`hv`a`h nrk`hfzeg gwa`rfn}
`m`l`d mfplnfm egepwhv`f 2pgr`hka`} arnenzne $2h& m`l`e zgl
zne`}fahv`(
Ew}`zf arnenzne
Cnr mn{hln`m crgg
Sfzf} 9 m`hfglbfnlnkf(blnkzpn}(jne
7/30/2019 aneuploidi & euploidi
5/21
7
GW_LNFMF
]rfplnfmf
Bfl` nrk`hfzeg egepwhv`f :pgr`hka`} arnenzne $:h&m`l`e zgl zne`}fahv`(
Ew}`zf arnenzne
bw`d%bw`d`hv`hk }`a bgrbfif(
]rfplnfm Z]GRFL
7/30/2019 aneuploidi & euploidi
6/21
ew}`zf arnenzne 3
GW_LNFMF
]g}r`plnfmf
Egeflfaf = pgr`hka`} arnenzne $=h&
M`l`e zgl zne`}fahv`
Ew}`zf arnenzne
Cgr}fl
]g}r`plnfm
7/30/2019 aneuploidi & euploidi
7/21
;
GW_LNFMF
_nlfplnfmf
Eglfb`}a`h pgr`hka`} arnenzne v`hk
aglfp`}`hhv` mw` 9 }g}r`plnfm $=h&,
dgt`plnfm $3h&, na}`plnfm $4h&, mll(
Ew}`zf arnenzne
n}npnlfplnfm, }gri`mf p`m`arnenzne dnenlnk,
efz`lhv` zge`hka` }`a
bgrbfif
`lnpnFfplnfm,}gri`mf p`m`arnenzne hnh%dnenlnk,
Rd`pd`hnbr`zzfj` $`a`r
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7/30/2019 aneuploidi & euploidi
8/21
7/30/2019 aneuploidi & euploidi
9/21
6
@hgwplnfmf
]gri`mf a`rgh` `m`hv` hnhmfziwhj}fnhp`m` {`a}w pgebgh}wa`h k`eg}
Vnw]wbg % HJG@ Kghg}fjz % Jdrnenzneg ew}`}fnhz p`r} 2(`zc
7/30/2019 aneuploidi & euploidi
10/21
0?
@hgwplnfmf
Hwllfznefa $2h 2&
Nrk`hfzeg v`hk agdfl`hk`h 2
arnenzne zgighfz $dnenlnk& m`l`e
zgl%zglhv`(
Ew}`zf arnenzne
Agewhkafh`h lwlwz dfmwp z`hk`} agjfl
7/30/2019 aneuploidi & euploidi
11/21
@HGW_LNFMF
ew}`zf arnenzne 00
Enhnznefa $2h 0 &
Nrk`hfzeg v`hk agdfl`hk`h z`}w
arnenzne m`l`e z`}w pgr`hka`}
E`hwzf` Enhnznefa
Zfhmrne ]wrhgr
7/30/2019 aneuploidi & euploidi
12/21
Zfhmrne }wrhgr
egeflfaf arnenzne T z`i`, }`hp`
arnenzne %V
7/30/2019 aneuploidi & euploidi
13/21
Zfhmrne }wrhgr
A`rfn}fpg9 =7,TMfmgrf}` nlgd {`hf}`]fhkkf b`m`h jghmgrwhk pghmga@l`} agl`efh }grl`eb`}bgrageb`hk
Mfzfzf lgdgr }webwd gebgl`h
m`kfhkAg%2 pw}}fhk zwzw bgri`r`a lgb`rAg}grbgl`a`hk`h egh}`l
7/30/2019 aneuploidi & euploidi
14/21
0=
@HGW_LNFMF
]rfznefa $2h ! 0&
Nrk`hfzeg v`hk egeflfaf aglgbfd`h
z`}w arnenzne m`l`e zgl%zglhv`
Ew}`zf arnenzne
E`hwzf` ]rfznefa
Zfhmrne Alfhgcgl}gr
$knhnzne&
Zfhmrne Mn{h
$`w}nzne&
7/30/2019 aneuploidi & euploidi
15/21
Zfhmrne alfhgcgl}gr
Egeflfaf 2 arnenzne T m`h 0 arnenzne V
7/30/2019 aneuploidi & euploidi
16/21
Zfhmrne Alfhgcgl}gr
A`rfn}fpg == @w}nzne ! TTVmfmgrf}` nlgd prf`
_gr}webwd`h r`ebw} awr`hkZw`r` }fhkkf]gz}fz eghkgjfl, e`hmwl]webwd p`vwm`r`
]fhkkf b`m`h bgrlgbfd`h
7/30/2019 aneuploidi & euploidi
17/21
=3
TV
=3
TT
=7,T
_ T
Hnre`l Hnre`l
2:T
2:V
22 2=TT
Zpgre`}nyn` Nswe
=7,T
Zfhmrne ]wrhgr
Zfhmrne Alfhgcgl}gr
7/30/2019 aneuploidi & euploidi
18/21
Zfhmrne Mn{h
Egeflfaf : bw`d `w}nzne p`m` hnenr 20
7/30/2019 aneuploidi & euploidi
19/21
Zfhmrne Mn{h
A`rfn}fpg =7 @w}nzne ! TT`}`w =7 @w}nzne ! TV
bgr}gl`p`a }gb`lE`}` zfpf} efrfhk agz`epfhkBfbfr }gb`l, ewlw} }grbwa`, lfwrzgl`lw eghg}gz
FP ark lbd =?Agmw` lwb`hk dfmwhk }grpfz`dlgb`r
Aglnp`a e`}` egeflfa lfp`}`h
7/30/2019 aneuploidi & euploidi
20/21
2?Ew}`zf arnenzne
7/30/2019 aneuploidi & euploidi
21/21
20
@HGW_LNFMF
]g}r`znefa $2h ! 0&
Nrk`hfzeg v`hk egeflfaf aglgbfd`h 2
arnenzne zgighfz m`l`e kghne
zw`}w fhmfsfmw
Ew}`zf arnenzne