Enfermedades Genetica Flashcards by Julia Centeno

Q

Neurofibromatosis I

A

AD cr17

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Maarfan

A

AD cr 15 (fibrilina)

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Noonan

A

AD
Mutaciones Ras (mayoria PTPN11)

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Acondroplasia

A

AD cr4 (FGFR3)

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Poliquística renal

A

AD

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

CHARGE

A

AD cr8

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Holoprosencefalia

A

AD cr7 (SHH)

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Loeys-Dietz

A

AD, cr3 o 9 (TFG)

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

FQ

A

AR cr7 (CFTR)

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Hiperplasia suprarrenal congénita

A

AR cr6 (21 hidroxilasa)

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Wilson

A

AR cr13 (ATP7B)

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Anemia falciforme

A

AR cr11 (beta globina)

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Hemocromatosis

A

AR cr6 (HFE)

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Déficit PK

A

AR cr1

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Hipertricosis

A

crX D (mayoría)

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Rett

A

crX D

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

FRAXA

A

crX D (pero permutación no expresa)
TRipletes, CGG

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Werner

A

AR cr8
Rotura cromosómica

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Cockayne

A

AR cr10 o cr5
Rotura cromosómica, escisión Nt

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Louis Bar

A

AR cr11
Rotura cromosómica

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Bloom

A

AR cr15
Rotura cromosómica

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Anemia de Fanconi

A

AR cr16
Rotura cromosómica

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Xeroderma

Study These Flashcards

A

AR
Rotura cromosómica

Q

Steinert

Study These Flashcards

A

AD cr19
Tripletes, CTG

Friedrich

AD cr9 Tripletes, GAA

Huntington

AD , cr4 Tripletes, CAG

Criduchat

del cr5p

Wolf Hirschon

del cr4p

Beckwith Wideman

cr11 Duplicación padre (no disyunción)

Silver Russel

cr11 Duplicación madre (no disyunción)

Charcot-Marie-Tooth

cr17 Duplicación

Angelmann

cr15 AR Microdeleción madre (o no disyunción padre)

Prader-Willi

cr15 AR Microdeleción padre (no disyunción madre)

Williams-Beuren

AR cr7 Microdeleción

Longer-Giedon

AD cr8 Microdeleción

Retinoblastoma

AD cr13 Microdeleción

Rubinstein-Taybi

AD cr16 Microdeleción

Miller-Diecker

AD cr17 Microdeleción

Smith-Magensis

AR cr17 Microdeleción

Di George

AR cr22 Microdeleción

Alagille

AR cr20 Microdeleción

Osteogénesis imperfecta

AD cr7 (mayoría)

Hemofilia

crX R

Becker

crX R

Dúchenme

crX R

Menkes

crX R (ATP7A)

Daltonismo

crX R

Déficit G6P DH

crX R

Híper IgM

crX R (CD40L)

Enfermedad granulomatosa crónica

crX R

Brutton

crX R

Morris

crX R

Leigh

Mitocondrial

Barth

Mitocondrial

Pearson

Mitocondrial

Kearns-Sayre

Mitocondrial