Genes I parcial

Question 1

47, XX/XY +21

Answer 1

Sx. Down

Question 2

47, XX/XY +18

Answer 2

Sx. Edwards

Question 3

47, XX/XY +13

Answer 3

Sx. Patau

Question 4

45, X

Answer 4

Sx. Turner

Question 5

47, XXY

Answer 5

Sx. Klinefelter

Question 6

5p15/5p31

Answer 6

Sx. Cri Du Chat

Question 7

4p16

Answer 7

Sx. Wolf-hirscchorn

Question 8

22q11

Answer 8

Sx. DiGeorge

Question 9

7q11

Answer 9

Sx. Williams

Question 10

17p11

Answer 10

Sx. Smith Magenis

Question 11

1p36

Answer 11

Sx. 1p36

Question 12

17q11 / Gen NF1

Answer 12

Neurofibromatosis

Question 13

9q34, Gen TSC1 Hamartrina

Answer 13

Esclerosis Tuberosa

Question 14

16p36, Gen TSC2 Tuberina

Answer 14

Esclerosis Tuberosa

Question 15

COL1A1 (7q21) / COL1A2

Answer 15

Osteogenesis Imperfecta

Question 16

17q21, Gen COL3A1

Answer 16

Sx. Ehlers Danlos

Question 17

19p13, Gen LDLR

Answer 17

Hipercolesterolemia Familiar

Question 18

▲F508, Gen CFTR, 7q31

Answer 18

Fibrosis quistica

Question 19

5q13, Gen TSMN1, 2 y NAIP

Answer 19

Atrofia muscular espinal

Question 20

11p15, Gen ß de la Hb S

Answer 20

Anemia drepanocitica

Question 21

3p21, Gen COL7A1

Answer 21

Epidermolisis Bullosa

Question 22

Gen TYR, 11q14

Answer 22

Albinismo Oculocutaneo 1A

Question 23

Gen OCA2. 15q11

Answer 23

ALbinismo oculocutaneo II

Question 24

Gen TYRP1. 9p23

Answer 24

Albinismo Ocuocutaneo III

Question 25

Disminución Factor VIII, Gen F8, X region 28

Answer 25

Hemofilia A

Question 26

Gen DMD, Xp21.2, ausencia total de distrofina

Answer 26

Distrofia muscular de Duchenne

Question 27

Gen DMD, Xp21.2, produccion anormal de distrofina

Answer 27

Distrofia muscular de Becker

Question 28

Gen STS, Xp22.3

Answer 28

Ictiosis ligada al X

Question 29

Gen NEMO (IKBKG), Xq28

Answer 29

Incontinentia pigmenti/Bloch-Sulzberger

Question 30

Gen PHEX Xp22.11

Answer 30

Raquitismo hipofosfatémico

Question 31

X, traslocación Xp21 o anillo cromosoma 10

Answer 31

Hipomelanisos de Ito

Question 32

Gen ND1, ND4, ND6

Answer 32

Neuropatia optica hereditaria de Leber (LHON)

Question 33

Gen MTTK, Lisina

Answer 33

Enfermedad de la epilepsia mioclonica y fibras rasgadas (MERRF)

Question 34

Gen MTTL, Leucina

Answer 34

Encefalopatia mitocondrial, acidosis lactica y episodios tipo ictus (MELAS)

Question 35

Gen HD, Huntingtina 4p16

Answer 35

Enfermedad de Huntington

Question 36

gen DMPK, 19q13, cinasa miotónica

Answer 36

distrofia miotonica tipo 1

Question 37

Gen FXN, 9q13, frataxina

Answer 37

Ataxia de Friedreich