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MOSAICISM IS A CONDITION IN WHICH CELLS WITHIN THE SAME INDIVIDUAL HAVE A DIFFERENT GENETIC MAKEUP. THE CYTOGENETIC ABNORMALITY CONFINED TO PLACENTA, MOST OFTEN THE TRISOMY STUDIED BY CVS(CHORIONIC VILLUS SAMPLING), DURING TO 9-11 WEEKS OF GESTATION IS KNOWN AS THE CONFINED PLACENTAL MOSAICISM.
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Praktikum 6 07
1.
Praktikum 6 Numerické
aberace chromozomů
2.
3.
4.
Úkol A –
karyotyp
5.
Triploidie 69,XXY Možnost
vzniku: n n n Nejčastěji dispermie
6.
Parciální hydatidiformní mola
7.
Triploidie v mozaice
69,XXY/46,XY 69,XXX/46,XX
8.
Více informací na
www: http://www.humpath.com/article.php3?id_article=8136
9.
10.
Normální karyotyp Triploidie
Trizomie Monozomie Aneuploidie Polyploidie
11.
12.
Trizomie 21 47,XX,+21
13.
47,XY,+21
14.
Downův syndrom 47,XX,+21
47,XY,+21
15.
Downův syndrom
16.
Downův syndrom Epikantus
„Opičí“ rýha
17.
Fenotypové znaky Downova
syndromu
18.
Trizomie 21 u
plodu
19.
Referát Péče o
děti s Downovým syndromem
20.
21.
22.
23.
24.
Karyotyp 2
25.
Trizomie chromozomu 13
47,XX,+13
26.
Patauův syndrom
27.
Patauův syndrom
28.
Patauův syndrom –
kyklopie (arinencefalie)
29.
Karyotyp 3
30.
Trizomie chromozomu 18
47,XY,+18
31.
Edwardsův syndrom Trizomie
chromozomu 18
32.
Edwardsův syndrom
33.
Edwardsův syndrom „
rocker bottom feet“
34.
Plod s trizomií
chromozomu 18
35.
Plod s trizomií
chromozomu 18
36.
Karyotyp 4
37.
Monozomie chromozomu X
45,X
38.
Turnerův syndrom
39.
Turnerův syndrom –
gonády
40.
Fenotypové znaky Turnerova
syndromu
41.
42.
43.
Karyotyp 5
44.
47,XXY
45.
Klinefelterův syndrom
46.
Fenotypové znaky Klinefelterova
syndromu
47.
Fenotyp Klinefelterova syndromu
48.
Karyotyp 6
49.
Superfemale – 47,XXX
50.
Karyotyp 7
51.
Supermale – 47,XYY
52.
Určete karyotyp spontánně
potraceného plodu a zapište jej podle ISCN1995
53.
Vyšetření Barrova tělíska
Buňky z bukálního stěru ústní sliznice
54.
55.
56.
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