Cromosomas ✖️ Flashcards

1
Q

Cr 1

A

01 Chediak- Higashi (1q 42-44) Prot LYST

01 Gaucher (1q21) Def glucocerebrosidasa

01 Neuroblastoma 1p36

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2
Q

Cr 2

A

02 Neuroblastoma- N-Myc pronóstico

02 Rabdomiosarcoma alveolar t(2:13): PAX3-FOXO1

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3
Q

Acondroplasia: FGFR3

Huntington: Huntingtina CAG

Wolf-Hischorn

A

Cr 4

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4
Q

Lejeune/ maullido de gato: deleción brazo corto

Sx mielodisplásico

Atopias

A

Cr 5

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5
Q

MHC: Complejo Mayor de Histocompatibilidad

JANZ epilepsia mioclónica juvenil

A

Cr 6

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6
Q

Cr 7

A

07 Fibrosis Quística (7q31.2) CFTR

07 DM-MODY.II glucoquinasa =Dieta/ejercicio (+fc de pediátricos)

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7
Q

Burkitt

A

t(8:14)

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8
Q

t(9:22)

A

LMC-LLA (25%) Philadelphia

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9
Q

Ataxia-telangiectasia: gen ATM
Omenn: gen RAG 1 y 2
Drepanocitosis: cadena B de Hb: posición 6 glutamina por valina
T. Wilms (WT1 y WT2 en <5%)

A

Cr 11

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10
Q

t(11:14)

A

L. de manto

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11
Q

Noonan: PTPN11

Fenilcetonuria: PAH ⬇️ fenilalanina hidroxilasa

TCG testículo (Isocromosoma brazo largo)

MODY 3 (HNF 1a) +fc adultos

Enfermedad de Von Willebrand

A

Cr 12

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12
Q

Cr 13

A
13 Patau- trisomia
13 Retinoblastoma (Rb13q14)
13 Ca pulmón cel pequeñas (Rb 90%)
13 Ataxia de Friedreich (9q) fratrataxina-GAA
13 LLC (del 13q)
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13
Q

t(14:18)

A

L. folicular

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14
Q

Cr 15

A
15 LMA M3 (15:17)
15 Marfan (15q21.1) fibrilina- FBN1
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15
Q

Meduloblastoma (Isocromosoma brazo largo)

NF1: Neurofibromina

A

Cr 17

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16
Q

Trisomía 18

A

Edwards

17
Q

Convulsiones neonatales benignas

A

Cr 20

18
Q

Trisomía 21

A

Down

19
Q

Cr 22

A

22 DiGeorge (22q11.2) inf. piogenas fcs

22 Meningioma benigno

20
Q

45,X

A

Turner

21
Q

47 XXY

A

Klinefelter

22
Q

Enfermedad de Fabry

A

(Xq22.1) AGLA: ⬆️Gb3- globotriciosilceramida

23
Q

Wiskott-Aldrich

A

(Xp11.2)- Prot. WASP

24
Q

Sx X frágil

A

(Xq27.3) FMR1: triplete CGG

25
Q

Meningioma maligno

A

1/10/14

26
Q

Alzheimer (presenilina1-B amiloide)

A

1/14/21

27
Q

1/7/10/11/13

A

Trastorno de angustia

28
Q

LLC de mejor a peor pronóstico

A

13q/11q/17p

29
Q

Oligodendroglioma

A

del 1p o del 19q

30
Q

8:21

A

LMA con riesgo favorable

31
Q

11:22

A

Tumor de Ewing

32
Q

Trisomia más común en abortos tempranos

A

Trisomia 16