Chromosomes and abnormalities Flashcards
1
Q
short arm is represented as
A
p
2
Q
long arm is represented as
A
q
3
Q
Acrocentric Chromosomes
A
Ch 13, 14, 15, 21 and 22.
4
Q
Aneuploidy
A
whole extra or missing chromosome
5
Q
Translocation
A
rearrangement of chromosomes
6
Q
Edward Syndrome
A
Trisomy 18
7
Q
Patau syndrome
A
Trisomy 13
8
Q
Rapid prenatal diagnosis
A
Interphase chromosome counting using FISH (Fluorescence In Situ Hybridization)
9
Q
45 X
A
Turner syndrome
10
Q
Robertsonian Translocation
A
Two acrocentric chromosomes stuck end to end
11
Q
Reciprocal translocation
A
Exchange of acentric and centric fragments
Exchange of 2 acentric fragments
12
Q
unbalanced products result in
A
MISCARRIAGE large segments
DYSMORPHIC DELAYED CHILD small segments
13
Q
Philadelphia Chromosome
A
46,XY,t(9;22)(q34;q11.2)
14
Q
Chromosomal Duplication Charcot Marie Tooth disease
A
- Damage to myelin sheath in peripheral nerves- progressive loss of muscle tissue and touch sensation
- Mutations in 39 genes can cause CMT
15
Q
Chromosomal Inversion
DEF
A
FED
