Cromosomas ✖️

Question 1

Cr 1

Answer 1

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

01 Gaucher (1q21) Def glucocerebrosidasa

01 Neuroblastoma 1p36

Question 2

Cr 2

Answer 2

02 Neuroblastoma- N-Myc pronóstico

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

Question 3

Acondroplasia: FGFR3

Huntington: Huntingtina CAG

Wolf-Hischorn

Answer 3

Cr 4

Question 4

Lejeune/ maullido de gato: deleción brazo corto

Sx mielodisplásico

Atopias

Answer 4

Cr 5

Question 5

MHC: Complejo Mayor de Histocompatibilidad

JANZ epilepsia mioclónica juvenil

Answer 5

Cr 6

Question 6

Cr 7

Answer 6

07 Fibrosis Quística (7q31.2) CFTR

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

Question 7

Burkitt

Answer 7

t(8:14)

Question 8

t(9:22)

Answer 8

LMC-LLA (25%) Philadelphia

Question 9

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%)

Answer 9

Cr 11

Question 10

t(11:14)

Answer 10

L. de manto

Question 11

Noonan: PTPN11

Fenilcetonuria: PAH ⬇️ fenilalanina hidroxilasa

TCG testículo (Isocromosoma brazo largo)

MODY 3 (HNF 1a) +fc adultos

Enfermedad de Von Willebrand

Answer 11

Cr 12

Question 12

Cr 13

Answer 12

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

Question 13

t(14:18)

Answer 13

L. folicular

Question 14

Cr 15

Answer 14

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

Question 15

Meduloblastoma (Isocromosoma brazo largo)

NF1: Neurofibromina

Answer 15

Cr 17

Question 16

Trisomía 18

Answer 16

Edwards

Question 17

Convulsiones neonatales benignas

Answer 17

Cr 20

Question 18

Trisomía 21

Answer 18

Down

Question 19

Cr 22

Answer 19

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

22 Meningioma benigno

Question 20

45,X

Answer 20

Turner

Question 21

47 XXY

Answer 21

Klinefelter

Question 22

Enfermedad de Fabry

Answer 22

(Xq22.1) AGLA: ⬆️Gb3- globotriciosilceramida

Question 23

Wiskott-Aldrich

Answer 23

(Xp11.2)- Prot. WASP

Question 24

Sx X frágil

Answer 24

(Xq27.3) FMR1: triplete CGG

Question 25

Meningioma maligno

Answer 25

1/10/14

Question 26

Alzheimer (presenilina1-B amiloide)

Answer 26

1/14/21

Question 27

1/7/10/11/13

Answer 27

Trastorno de angustia

Question 28

LLC de mejor a peor pronóstico

Answer 28

13q/11q/17p

Question 29

Oligodendroglioma

Answer 29

del 1p o del 19q

Question 30

8:21

Answer 30

LMA con riesgo favorable

Question 31

11:22

Answer 31

Tumor de Ewing

Question 32

Trisomia más común en abortos tempranos

Answer 32

Trisomia 16