GENETICA (GENES) Flashcards

1
Q

DIABETES TIPO MODY

A

AD

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2
Q

DALTONISMO

A

AR LIGADO AL X

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3
Q

DISTROFIA MUSCULAR DE DUCHENNE Y DE BECKER

A

AR LIGADO AL X

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4
Q

ATAXIA DE FRIEDRICH

A

AR

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5
Q

ENFERMEDAD DE FABRY

A

AD LIGADO AL X

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6
Q

HIPOFOSFATEMIA

A

AD LIGADO AL X

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7
Q

FQ Y DEFICIT DE ALFA 1 AT

A

AR

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8
Q

ENFERMEDAD DE BRUTON

A

AR LIGADO AL X

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9
Q

SINDROME DE RETT

A

AD LIGADO AL X

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10
Q

ENFERMEDAD DE HUNTINGTON

A

AD

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11
Q

ESFEROCITOSIS, FACOMATOSIS, OTOSCLEROSIS, POLIQUISTOSIS (ADULTO)

A

AD

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12
Q

FIEBRE MEDITERRANEA FAMILIAR

A

AR

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13
Q

WILSON

A

AR

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14
Q

TALASEMIAS Y DREPANOCITOSIS

A

AR

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15
Q

HEMOFILIAS Y DEFICIT DE G6PDH

A

AR LIGADO AL X

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16
Q

SD DE LESCH NYHAN

A

AR LIGADO AL X

17
Q

SD DE WISKOTT ALDRICH

A

AR LIGADO AL X

18
Q

MEN 1 Y 2

A

AD

19
Q

MIOCARDIOPATIA HIPERTRÓFICA FAMILIAR

A

AD

20
Q

HOMOCISTINURIA, FENILCETONURIA, GALACTOSEMIA

A

AR

21
Q

ENFERMEDAD DE HUNTER O MUCOPOLISACARIDOSIS TIPO 2

A

AR LIGADO AL X

22
Q

HIPERCOLESTEROLEMIA FAMILIAR

A

AD

23
Q

ENFERMEDADES DE DEPOSITO LIPOSOMAL (SALVO FABRY)

A

AR

24
Q

PORFIRIAS

A

AD

25
Q

SD DE LYNCH

A

AD

26
Q

SD DE MARFAN

A

AD

27
Q

SD DE POLIPOSIS INTESTINAL

A

AD

28
Q

TRASTORNOS CONGÉNITOS PROTROMBOTICOS

A

AD

29
Q

ENFERMEDAD DE CHARCOT-MARIE-TOOTH TIPO 2A

A

AD

30
Q

GEN DEL SINDROME DEL X FRAGIL

A

FMR1