‹#›
![](3D"master03_background.gif")
STRUKTURÁLN&Iac=
ute;
<=
b>
&U=
acute;BLG
1.LF UK
• ► NUMERICKÉ
•
•
• <=
b>► STRUKTURÁLNÍ
•
•
• ► MIXOPLOIDIE
••
![](3D"slide0024_image001.gif")
![](3D"slide0024_image002.gif")
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••
• <=
/b>MOZAICISMUS
•<=
/span> CHIMÉRISMUS
BALANCOVANÉ
NEBALANCOVANÉ
BALANCOVANÉ
(BEZ FENOTYPOVÝCH
PROJEVŮ)
•••••
NEBALANCOVANÉ:
••
••ISOCHROMOSOM
DICENTRICKÝ
=
<=
span
style=3D'font-family:Arial;visibility:hidden'>•&=
#13;
=
DELECE
INTERSTICIÁLNÍ
INTERSTICIÁLNÍ
![3Ddei1](3D"slide0005_image001.jpg")
![3Ddei2](3D"slide0005_image002.jpg")
![3Ddei60](3D"slide0005_image007.gif")
TERMINÁLN&Iacu=
te;
![3Ddeq1](3D"slide0004_image003.jpg")
![3Ddeq2](3D"slide0004_image004.jpg")
![3Ddeq60](3D"slide0004_image011.gif")
PARACENTRICKÁ<=
/b>
![3Dinq1](3D"slide0005_image003.gif")
![3Dinq60](3D"slide0028_image012.gif")
![](3D"slide0028_image005.gif")
Balancovaná přestavba
Snížení fertility - častější
aborty (crossing over - vznik acentrických a dicentrických
chromosomů během meiózy)
PERICENTRICKÁ<=
/b>
![3Dinc60](3D"slide0006_image015.gif")
![](3D"slide0006_image006.gif")
Bez fenotypových projevů pro nositele
Riziko postižení=
; potomstva - tvorba nebalancovaných gamet (parciální trisomie a parciální monosomie)
VZNIK
NEBALANCOVANÝCH GAMET
<=
![if !vml]>![3D"pericentric](3D"slide0029_image018.gif")
![3D"pericentric](3D"slide0029_image007.jpg")
![3D"pericentric](3D"slide0029_image008.jpg")
![](3D"slide0029_image022.gif")
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IP8Avuu7BxlHmuuxMmmf/9m=
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PARC.
TRISOMIE=
PARC.
MONOSOMIE
PARC.
TRISOMIE=
PARC.
MONOSOMIE
![=3Drin1](3D"slide0008_image023.gif")
![3Drin2](3D"slide0008_image024.gif")
![3Drin60](3D"slide0008_image025.gif")
![=3Diso1](3D"slide0025_image026.gif")
![3Diso2](3D"slide0025_image027.gif")
![3Diso60](3D"slide0025_image028.gif")
RECIPROKÁ<=
/span>
![=3Drtr1](3D"slide0009_image029.gif")
![3Drtr2](3D"slide0009_image030.gif")
![3Drtr60](3D"slide0009_image031.gif")
ROBERTSONOVA
![=3Drst1](3D"slide0026_image032.gif")
![3Drst2](3D"slide0026_image033.gif")
![3Drst60](3D"slide0026_image034.gif")
MEZINÁRODNÍ CYTOGENETICKÁ NOMENKLATURA
ISCN – 1995, 2005
(příklady symbolů a zkratek)&#= 13;
ISCN – 1995, 2005
(příklady symbolů a zkratek)&#= 13;
•Normální lidský
karyotyp:<=
span
style=3D'mso-spacerun:yes'> 46, XX nebo 46, XY=
•
•Numerické
aberace: 47, XXY; 45, X; 69, XXY =
; &n=
bsp; =
; &n=
bsp;
• +/-
před chromosomem
nadpočetným/chybějícím 47, XX, +21
•
•Strukturní
aberace – vybrané
příklady:
• -
delece 46=
, XY,
del(5)(p?) 46, X, del(X)(q?)=
• t -<=
span
style=3D'mso-spacerun:yes'> translokace (reciproká) 46, XY, t(2;8)(p?;q?)
•=
der, rob -
derivovaný chromosom (Robertsonova translokace) =
45, XX, der(14;21) n.<=
span
style=3D'mso-spacerun:yes'> 45, XX, rob(14;21)=
• =
; &n=
bsp;
46, XY, der(21;21), +21 n.<=
span
style=3D'mso-spacerun:yes'> 46, XY, rob(21;21), +21=
•
DELEČNÍ F= ORMA
![3D"turner18](3D"slide0047_image010.jpg")
![3D"Turner](3D"slide0047_image038.gif")
![](3D"slide0047_image039.gif")
![](3D"slide0047_image040.gif")
46,X,del(Xp)
(SYNDROM
„KOČIČÍHO KŘIKU“)
<=
span
style=3D'font-family:"Comic Sans MS"'>••retardace
•obličej (v
dětství)
•<=
span
style=3D'font-family:"Comic Sans MS";mso-ascii-font-family:"Comic Sans MS";
mso-hansi-font-family:"Comic Sans MS"'>hypoplasie laryngu - =
vysoký pronikavý
pláč
<=
![if !vml]>![=3D"5p](3D"slide0030_image012.jpg")
![3D5p](3D"slide0030_image014.jpg")
![](3D"slide0030_image045.gif")
![](3D"slide0030_image046.gif")
![3D"joel_6](3D"slide0046_image061.gif")
![](3D"slide0030_image016.gif")
del(5p)=
![=3DPWS](3D"slide0045_image017.jpg")
•KOJENCI:
••neprospívání,
opoždění vývoje
•••polyfagie - těžká obezita =
s následky (DM,
poruchy ob=
83;hu,…)
•••<=
span
style=3D'font-family:"Comic Sans MS";mso-ascii-font-family:"Comic Sans MS";
mso-hansi-font-family:"Comic Sans MS";font-size:86%;mso-special-format:las=
tCR;
display:none'>
![3D"Nováková](3D"slide0045_image019.jpg")
![](3D"slide0045_image055.gif")
![3D"Filařová](3D"slide0045_image021.jpg")
![](3D"slide0045_image058.gif")
del(15)(q11-13)pat<=
/b>
![](3D"slide0045_image059.gif")
![=3DAS](3D"slide0046_image022.jpg")
•=
těžká
mentální retardace
•řeči
•=
toporná chůze
•záchvaty
smíchu
•<=
/span>„škubavé“
pohyby končetin
<=
/span>
•=
syndrom „happy =
puppet“
![3D"vetrová](3D"slide0046_image024.jpg")
![3D"Rathová](3D"slide0046_image026.jpg")
![](3D"slide0046_image066.gif")
del(15)(q11-13)mat<=
/b>
![](3D"slide0046_image067.gif")
![](3D"slide0034_image068.gif")
TRANSLOKAČN&Iacu= te; FORMA
![=3D07ds](3D"slide0034_image027.jpg")
![=3Dfig1b](3D"slide0034_image029.jpg")
M. DOWN:
95% prost=
á
trisomie chr. 21
4-5% translokační forma
&nbs=
p;
(Robertsonova translokace) =
;
<1% mo=
zaicismus=
TRANSLOKAČN&Iacu= te; FORMA
![3D"Down](3D"slide0036_image030.jpg")
![](3D"slide0036_image075.gif")
46,XY,der(14;21),+214
![](3D"slide0036_image076.gif")
![](3D"slide0039_image077.gif")
=
Zhodnoťte karyotyp novorozence se znaky =
Downova syndromu (př.12, str. 43):
![=3D"21;21+21"](3D"slide0039_image032.jpg")
![](3D"slide0039_image080.gif")
![](3D"slide0039_image081.gif")
Downův syndrom<=
/div>
![](3D"slide0039_image082.gif")
46,XX,der(21;21),+21&#=
13;
![](3D"slide0040_image033.gif")
=
21
=
21
![](3D"slide0040_image034.gif")
21
21
![](3D"slide0040_image035.gif")
21
![](3D"slide0040_image086.gif")
![](3D"slide0040_image087.gif")
![](3D"slide0040_image088.gif")
![](3D"slide0040_image090.gif")
=
GAMETA
=
(II.
rodič)
=
GAMETA
=
(I.
rodič)
=
ZYGOTA
=
(PLOD)
=
FENOTYP
=
KARYOTYP
=
MEIÓZA
![](3D"slide0040_image036.gif")
21
21
=
21
=
21
21
21
=
LETÁLNÍ
45,XX(XY),-21
=
(MONOSOMIE)
=
M.DOWN
46,XX(XY),der(21;21),+21
(TRISOMIE)
![](3D"slide0040_image092.gif")
45,XY,der(21;21)
![](3D"slide0040_image093.gif")
46,XX
![](3D"slide0040_image094.gif")
Riziko: teoretické 100%, empirické 100%
![](3D"slide0042_image038.gif")
<=
span
style=3D'font-family:"Comic Sans MS";mso-ascii-font-family:"Comic Sans MS";
mso-hansi-font-family:"Comic Sans MS";font-size:64%;text-shadow:auto;
color:black'>Zhodnoťte karyotyp otce dítěte se znaky
Downova syndromu, matka 46,XX (př.11, str. 4=
2):
![](3D"slide0042_image039.gif")
![](3D"slide0042_image098.gif")
Balancovaná translokace&#=
13;
![](3D"slide0042_image099.gif")
45,XY,der(14;21) - otec&#=
13;
![](3D"slide0042_image100.gif")
46,XX(XY),der(14;21),+21 –
dítě M. Down
![](3D"slide0041_image040.gif")
45,XY,der(14;21)
![](3D"slide0041_image041.gif")
![](3D"slide0041_image042.gif")
![](3D"slide0041_image104.gif")
![](3D"slide0041_image105.gif")
![](3D"slide0041_image106.gif")
![](3D"slide0041_image113.gif")
=
21
![](3D"slide0041_image114.gif")
=
14
![](3D"slide0041_image115.gif")
![](3D"slide0041_image043.gif")
14
21
14
21
21
21
14
14
14
14
21
21
46,XX
![](3D"slide0041_image044.gif")
=
NORMA
=
M.DOWN
33,3%
=
LETÁLNÍ
=
BALANCOVANÁ
=
TRANSLOKACE
14
21
![](3D"slide0043_image045.gif")
MORBUS DOWN
PROBAND
RODIČE
RIZIKO=
47,XX/Y<=
/b>,+21
46,XX/Y =
46,XX/Y<=
/b> =
> n=
ež popul=
ační=
závisí na věku matky
46,XX/Y<=
/b>,der(21;21=
),+21
45,XX/Y ,der(21;21)
46,XX/Y<=
/b> =
100% TEORETICKÉ=
100% EMPIRICKÉ
46,XX/Y<=
/b>,der(D;21)=
,+21=
46,XX/Y<=
/b>+21,der(21=
;22)
45,XX/Y ,der(D;21)=
45,XX/Y ,der(21;22)
46,XX/Y<=
/b> =
33,3% TEORETICKÉ =
EMPIRICKÉ:=
cca =
5% -
nositel otec
cca =
15% -
nositelka matka
46,XX/Y<=
/b>,der(D;21)=
,+21=
46,XX/Y<=
/b>,+21,der(2=
1;G)
46,XX/Y
46,XX/Y<=
/b> =
NOVÁ MUTACE=
NONPATERNITA
47,XX/Y<=
/b>,+21
47,XX/Y,+21/46,X<=
/b>X/Y
46,XX/Y<=
/b> =
MOZAIKA
– závisí na zastoupen&=
iacute;
linií aberovaných a normálních =
=
buněk
![3D5p-k](3D"slide0044_image120.gif")
![](3D"slide0044_image121.gif")
<=
![endif]>
=
Zhodnoťte karyotyp chlapce s psychomotorickou <=
span
style=3D'font-family:"Comic Sans MS";mso-ascii-font-family:"Comic Sans MS";
mso-hansi-font-family:"Comic Sans MS";font-size:64%;text-shadow:auto;
color:black'>retardací
(př.15, str. 44):
![](3D"slide0044_image122.gif")
Syndrom kočičího k=
45;iku
![](3D"slide0044_image123.gif")
46,XY,del(5p)&#=
13;
![](3D"slide0044_image124.gif")
![](3D"slide0044_image125.gif")
Klepnutím lze upravit styly př=
;edlohy
textu.
Druhá úroveň
Třetí úroveň
=
;
Čtvrtá úroveň=
3;
Pátá úroveň
‹#›
21
Prenatální vyšetření karyoty=
pu
plodu v dalším těhotenství není
indikováno!
Řešení závisí na pohlav&iacu=
te;
nositele translokace – dárcovství spermií,
oocytů, adopce,…
23
V další graviditě indikováno
chromosomální vyšetření plodu
(pravděpodobně amniocentéza).
' + ENDSHOW_MESG + '
![](3D"notes_flag.gif")
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známky![](3D"buttons.gif")
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