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Genetics > Genes I parcial > Flashcards

Genes I parcial Flashcards

1
Q

47, XX/XY +21

A

Sx. Down

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2
Q

47, XX/XY +18

A

Sx. Edwards

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3
Q

47, XX/XY +13

A

Sx. Patau

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4
Q

45, X

A

Sx. Turner

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5
Q

47, XXY

A

Sx. Klinefelter

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6
Q

5p15/5p31

A

Sx. Cri Du Chat

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7
Q

4p16

A

Sx. Wolf-hirscchorn

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8
Q

22q11

A

Sx. DiGeorge

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9
Q

7q11

A

Sx. Williams

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10
Q

17p11

A

Sx. Smith Magenis

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11
Q

1p36

A

Sx. 1p36

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12
Q

17q11 / Gen NF1

A

Neurofibromatosis

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13
Q

9q34, Gen TSC1 Hamartrina

A

Esclerosis Tuberosa

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14
Q

16p36, Gen TSC2 Tuberina

A

Esclerosis Tuberosa

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15
Q

COL1A1 (7q21) / COL1A2

A

Osteogenesis Imperfecta

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16
Q

17q21, Gen COL3A1

A

Sx. Ehlers Danlos

17
Q

19p13, Gen LDLR

A

Hipercolesterolemia Familiar

18
Q

▲F508, Gen CFTR, 7q31

A

Fibrosis quistica

19
Q

5q13, Gen TSMN1, 2 y NAIP

A

Atrofia muscular espinal

20
Q

11p15, Gen ß de la Hb S

A

Anemia drepanocitica

21
Q

3p21, Gen COL7A1

A

Epidermolisis Bullosa

22
Q

Gen TYR, 11q14

A

Albinismo Oculocutaneo 1A

23
Q

Gen OCA2. 15q11

A

ALbinismo oculocutaneo II

24
Q

Gen TYRP1. 9p23

A

Albinismo Ocuocutaneo III

25
Q

Disminución Factor VIII, Gen F8, X region 28

A

Hemofilia A

26
Q

Gen DMD, Xp21.2, ausencia total de distrofina

A

Distrofia muscular de Duchenne

27
Q

Gen DMD, Xp21.2, produccion anormal de distrofina

A

Distrofia muscular de Becker

28
Q

Gen STS, Xp22.3

A

Ictiosis ligada al X

29
Q

Gen NEMO (IKBKG), Xq28

A

Incontinentia pigmenti/Bloch-Sulzberger

30
Q

Gen PHEX Xp22.11

A

Raquitismo hipofosfatémico

31
Q

X, traslocación Xp21 o anillo cromosoma 10

A

Hipomelanisos de Ito

32
Q

Gen ND1, ND4, ND6

A

Neuropatia optica hereditaria de Leber (LHON)

33
Q

Gen MTTK, Lisina

A

Enfermedad de la epilepsia mioclonica y fibras rasgadas (MERRF)

34
Q

Gen MTTL, Leucina

A

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

35
Q

Gen HD, Huntingtina 4p16

A

Enfermedad de Huntington

36
Q

gen DMPK, 19q13, cinasa miotónica

A

distrofia miotonica tipo 1

37
Q

Gen FXN, 9q13, frataxina

A

Ataxia de Friedreich

Genetics (3 decks)

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