genetica Flashcards
1
Q
cromosoma rb
A
13
2
Q
cromosoma brca2
A
13
3
Q
cromosoma apc
A
5
4
Q
cromosomas nf
A
nf1 17
nf2 22
5
Q
cromosoma cancer pancreas DTC
A
18
6
Q
CROMOSOMA P53
A
17
7
Q
herencia wiskott aldrick
A
x linked recesive
8
Q
Androgen insensitivity síndrome inheritance
A
X linked recesive
9
Q
Most common
hepatoesplenomegaly
a vascular necrosis of the femur
A
crumble paper macrophages
10
Q
Herencia Lysosomal storage diseases
A
AR menos fabry(XR)
11
Q
herencia brutons a gamaglobulinemia
A
x linked recesive
12
Q
lesch nyhan herency
A
x res
13
Q
Silly laugh , ataxia, mental retaradation
A
Angelman
ubiquitin ligase E3A (UBE3A) gene on chromosome 15
maternal deletion
14
Q
GEN enfermedad de wilson
A
ATP7B
15
Q
Marfan vs homocystinuria
A
M. Upward ectopic
16
Q
Cf gene mutation + chromosome
A
Cftr, phe508 cr7
17
Q
Fases mitosis
A
Pmat
M; karyotype
18
Q
Brca 1 /2chromosme
A
1: 17 B+O
2: 13 B
19
Q
APC Cr
A
5
