genetica Flashcards

1
Q

cromosoma rb

A

13

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2
Q

cromosoma brca2

A

13

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3
Q

cromosoma apc

A

5

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4
Q

cromosomas nf

A

nf1 17

nf2 22

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5
Q

cromosoma cancer pancreas DTC

A

18

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6
Q

CROMOSOMA P53

A

17

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7
Q

herencia wiskott aldrick

A

x linked recesive

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8
Q

Androgen insensitivity síndrome inheritance

A

X linked recesive

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9
Q

Most common
hepatoesplenomegaly
a vascular necrosis of the femur

A

crumble paper macrophages

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10
Q

Herencia Lysosomal storage diseases

A

AR menos fabry(XR)

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11
Q

herencia brutons a gamaglobulinemia

A

x linked recesive

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12
Q

lesch nyhan herency

A

x res

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13
Q

Silly laugh , ataxia, mental retaradation

A

Angelman
ubiquitin ligase E3A (UBE3A) gene on chromosome 15
maternal deletion

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14
Q

GEN enfermedad de wilson

A

ATP7B

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15
Q

Marfan vs homocystinuria

A

M. Upward ectopic

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16
Q

Cf gene mutation + chromosome

A

Cftr, phe508 cr7

17
Q

Fases mitosis

A

Pmat

M; karyotype

18
Q

Brca 1 /2chromosme

A

1: 17 B+O
2: 13 B

19
Q

APC Cr

A

5