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Drugs and diseases > Aneuploidy > Flashcards

Aneuploidy Flashcards

1
Q

Down syndrome

A

Trisomy 21

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2
Q

Trisomy 21

A

Down syndrome

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3
Q

Turner Syndrome

A

45, X

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4
Q

45, X

A

Turner Syndrome

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5
Q

Short, webbed neck, borad chest, infertility

A

Turner Syndrome - symptoms

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6
Q

Turner Syndrome - symptoms

A

Short, webbed neck, borad chest, infertility

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7
Q

Klinefelter syndrome

A

47, XXY

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8
Q

47, XXY

A

Klinefelter syndrome

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9
Q

Klinefelter syndrome - Symptoms

A

tall, hypogonadism, sterility, lang. impairment, gynecomastia

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10
Q

tall, hypogonadism, sterility, lang. impairment, gynecomastia

A

Klinefelter syndrome - Symptoms

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11
Q

Patau Syndrome

A

47, XX, +13

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12
Q

47, XX, +13

A

Patau Syndrome

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13
Q

Patau Syndrome - Symptoms

A

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

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14
Q

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

A

Patau Syndrome - Symptoms

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15
Q

Edwards syndrome

A

47, XX, +18

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16
Q

47, XX, +18

A

Edwards syndrome

17
Q

Edwards syndrome - symptoms

A

growth retardation, Hypertonicity, Seizures, ID severe

18
Q

growth retardation, Hypertonicity, Seizures, ID severe

A

Edwards syndrome - symptoms

19
Q

Triple X syndrome

A

47 XXX

20
Q

47 XXX

A

Triple X syndrome

21
Q

Triple X syndrome - symptoms

A

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

22
Q

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

A

Triple X syndrome - symptoms

23
Q

Jacobs Syndrome

A

47, XYY

24
Q

47, XYY

A

Jacobs Syndrome

25
Q

Jacobs Syndrome - Symptoms

A

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

26
Q

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

A

Jacobs Syndrome - Symptoms

27
Q
A

Drugs and diseases (13 decks)

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