Aneuploidy Flashcards Preview

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Flashcards in Aneuploidy Deck (27)
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1

Down syndrome

Trisomy 21

2

Trisomy 21

Down syndrome

3

Turner Syndrome

45, X

4

45, X

Turner Syndrome

5

Short, webbed neck, borad chest, infertility

Turner Syndrome - symptoms

6

Turner Syndrome - symptoms

Short, webbed neck, borad chest, infertility

7

Klinefelter syndrome

47, XXY

8

47, XXY

Klinefelter syndrome

9

Klinefelter syndrome - Symptoms

tall, hypogonadism, sterility, lang. impairment, gynecomastia

10

tall, hypogonadism, sterility, lang. impairment, gynecomastia

Klinefelter syndrome - Symptoms

11

Patau Syndrome

47, XX, +13

12

47, XX, +13

Patau Syndrome

13

Patau Syndrome - Symptoms

characteristic facies, CNS ab., Facial cleft, polydactyly, Congenital heart disease, etc.

14

characteristic facies, CNS ab., Facial cleft, polydactyly, Congenital heart disease, etc.

Patau Syndrome - Symptoms

15

Edwards syndrome

47, XX, +18

16

47, XX, +18

Edwards syndrome

17

Edwards syndrome - symptoms

growth retardation, Hypertonicity, Seizures, ID severe

18

growth retardation, Hypertonicity, Seizures, ID severe

Edwards syndrome - symptoms

19

Triple X syndrome

47 XXX

20

47 XXX

Triple X syndrome

21

Triple X syndrome - symptoms

tall, female, seizures, LD, delayed speech, variable expressivity

22

tall, female, seizures, LD, delayed speech, variable expressivity

Triple X syndrome - symptoms

23

Jacobs Syndrome

47, XYY

24

47, XYY

Jacobs Syndrome

25

Jacobs Syndrome - Symptoms

Male, LD, behavioral issues, tall, developmental delays, autism

26

Male, LD, behavioral issues, tall, developmental delays, autism

Jacobs Syndrome - Symptoms

27