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Genetica > Herencia Ligada A Los Cromosomas Sexuales > Flashcards

Herencia Ligada A Los Cromosomas Sexuales Flashcards

1
Q

Hemofilia A y B

A

Tipo a Factor 8
Tipo B factor 9

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2
Q

Hemartrosis
Hematomas
Epistaxis (sangrado nasal)
Sagrado ando al cirugías dentarias

A

Hemofilia

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3
Q

Hemofilia B locus

A

Gen F9 Xq27.1

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4
Q

Hemofilia A locus

A

Gen F8 xq28

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5
Q

Gen DMD
Ausencia total

A

Distrofia muscular duchenne

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6
Q

Distrofia muscular duchenne
Mutación

A

Mutación gen Xp21.2

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7
Q

Signo Gowers Positivo
Escoliosis
Neumonía

A

Distrofia muscular duchenne

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8
Q

Distrofia muscular duchenne cuando empiezan a caminar y a utilizar sillas de ruedas

A

Sillas de ruedas 12-13 años
Caminan 18 y 24 meses

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9
Q

Dx y tx distrofia muscular duchenne

A

Dx clínico y confirmación con MLPA
Tx corticosteroides

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10
Q

Gen DMD
Se encuentra anormal

A

Distrofia muscular de becker

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11
Q

Marcha en puntillas o calambres durante el ejercicio
Muerte por cardiomiopatia dilatada e insuficiencia respiratoria

A

Distrofia muscular becker

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12
Q

Silla de ruedas e inicio de enfermedad Distrofia muscular de Becker

A

16-18 años silla de ruedas
Inicio de enfermedad 11 años

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13
Q

Xp22.3
Mutación Gen STS

A

Ictiosis ligada al X

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14
Q

Deficiencia Sulfatasa esteroidea

A

Ictiosis ligada al X

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15
Q

Trastorno de descamación piel seca
Escamas poligonales café oscuro
Persona sucia

A

Ictiosis ligada al X

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16
Q

Incontinentia Pigmenti

A

Mutación gen NEMO
Deficiencia NF-KB

17
Q

Incotinentia pigmenti heterogeneidad

A

Heterogeneidad alelica

18
Q

Siguen líneas de Blaschko: vesículas o zonas hiperpigmentadas
Pelo escaso
Uñas distroficas
Crisis convulsivas
QUE GEN ES????

A

NEMO
Incontinentia Pigmenti

19
Q

Raquitismo Hipofosfatemico Familiar
Gen y locus
Y defecto

A

Gen PHEX
Xp22
Reabsorción Renal del fosfato

20
Q

Fosfaturia
Osteomalacia
Talla baja
Gene varo o genu valgo
Caries
QUE GEN ES?

A

PHEX Xp22

Genetica (16 decks)

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