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Cromosomas y Enfermedades Genéticas > Herencia > Flashcards

Herencia Flashcards

1
Q

COREA DE HUNGTINGTON

A

AUTOSÓMICA DOMINANTE

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2
Q

DISTROFIA MIOTÓNICA DE STEINERT

A

AUTOSÓMICA DOMINANTE

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3
Q

DISTROFIA MIOTÓNICA DE STEINERT

A

AUTOSÓMICA DOMINANTE

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4
Q

NEUROFIBROMATOSIS TIPO I o ENFERMEDAD DE VON RECLINGHAUSEN

A

AUTOSÓMICA DOMINANTE

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5
Q

SÍNDROME DE MARFAN

A

AUTOSÓMICA DOMINANTE

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6
Q

ACONDROPLASIA

A

AUTOSÓMICA DOMINANTE

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7
Q

ENFERMEDAD DE CHARCOT MARIE TOOTH TIPO 1

A

AUTOSÓMICA DOMINANTE

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8
Q

SÍNDROME DE CHARGE

A

AUTOSÓMICA DOMINANTE

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9
Q

HOLOPROSENCEFALIA

A

AUTOSÓMICA DOMINANTE

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10
Q

ENFERMEDAD POLIQUÍSTICA RENAL

A

AUTOSÓMICA DOMINANTE

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11
Q

SÍNDROME DE LOEYS-DIETZ

A

AUTOSÓMICA DOMINANTE

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12
Q

FIBROSIS QUÍSTICA O MUCOVISCIDOSIS

A

AUTOSÓMICA RECESIVA

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13
Q

HIPERPLASIA SUPRARRENAL CONGÉNITA

A

AUTOSÓMICA RECESIVA

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14
Q

HEMOFILIA A

A

RECESIVA LIGADA A X

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15
Q

HEMOFILIA B

A

RECESIVA LIGADA A X

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16
Q

DISTROFIA MUSCULAR DE DUCHENNE

A

RECESIVA LIGADA A X

17
Q

DISTROFIA MUSCULAR DE BECKER

A

RECESIVA LIGADA A X

18
Q

DALTONISMO

A

RECESIVA LIGADA A X

19
Q

ENFERMEDAD GRANULOMATOSA CRÓNICA

A

RECESIVA LIGADA A X

20
Q

ENFERMEDAD DE MENKES

A

RECESIVA LIGADA A X

21
Q

SÍNDROME DE LESCH-NYHAN

A

RECESIVA LIGADA A X

22
Q

ENFERMEDAD DE BRUTTON

A

RECESIVA LIGADA A X
Agammaglobulinemia

23
Q

SINDROME DE HIPER IgM

A

RECESIVA LIGADA A X

24
Q

DÉFICIT DE GLUCOSA 6-P DESHIDROGENASA

A

RECESIVA LIGADA A X

25
Q

SÍNDROME DE X FRÁGIL o SÍNDROME DE MARTIN-BELL o FRAXA

A

DOMINANTE LIGADA A X

26
Q

RAQUITISMO RESISTENTE A LA VITAMINA D

A

DOMINANTE LIGADA A X

27
Q

SÍNDROME DE RETT

A

DOMINANTE LIGADA A X
Mutación en MEPC2, letal para los varones

28
Q

OSTEOGÉNESIS IMPERFECTA

A

AUTOSÓMICA DOMINANTE

29
Q

HIPERCOLESTEROLEMIA FAMILIAR

A

AUTOSÓMICA DOMINANTE

30
Q

ENFERMEDAD DE VON WILLEBRAND

A

AUTOSÓMICA DOMINANTE (cromosoma 12)

31
Q

DEFICIENCIA DE C1-INHIBIDOR

A

AUTOSÓMICA DOMINANTE

32
Q

NEOPLASIA ENDOCRINA MÚLTIPLE

A

AUTOSÓMICA DOMINANTE

Cromosomas y Enfermedades Genéticas (8 decks)

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