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Синдром на Даун, Едуардс и Патау.pptx
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Синдром на Даун, Едуардс и Патау.pptx
1.
Синдром на Даун, Едуардс
и Патау Дарина Димитрова 10в
2.
1. Синдром на Даун
3.
Причини и форми
на тризомия 21 3 1. Свободен тип Кариотип: 47ХХ + 21 / 47ХУ + 21 2. Транслокационен тип 45,XX,t(21;14)(q10;q10) / 45,XY,t(21;14)(q10;q10) 3. Мозаичен тип 46,XX/47,XX+21 / 46,XY/47,XY+21 4. Частичен
4.
4
5.
Честота 5 ● В България
100 деца се раждат със Синдром на Даун годишно
6.
Външни белези 6 ● малки
нос, уста и уши ● леко раздалечени пръсти ● очи с форма на бадем ● плоско кръгло лице ● ниска фигура ● голям език
7.
2. Синдром на Едуардс
8.
Причини 8
9.
Кариотип 9 47ХХ + 18
/ 47ХУ + 18
10.
Външни белези 10 ● ниско
разположени уши ● припокриващи се пръсти ● аномалии на сърцето или белите дробове ● малки по размер ● изкривени крака
11.
3. Синдром на Патау
12.
Причини 12
13.
Кариотип 13 47ХХ + 13
/ 47ХУ + 13
14.
Външни белези ✘ Цепнатина
на устната ✘ Малки очи или око ✘ Липса на очи или око ✘ Микроцефалия ✘ Допълнителни пръсти 14
15.
Методи за генетични
изследвания ✘ Комбиниран скрининг ✘ Скрининг чрез свободна фетална ДНК от клетки ✘ Неинвазивен пренатален тест (NIPT) 15
16.
БЛАГОДАРЯ ВИ ЗА ВНИМАНИЕТО!
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