Genetic Mechanism of Disease Flashcards
0
Q
Monosomies
A
21, 22
1
Q
Down Syndrome
A
Trisomy 21
Physical growth delays
Mild to moderate intellectual disability
Low muscle tone, increased skin at back of neck, umbilical hernia
2
Q
Klinefelters
A
XXY
Geneotypically male, phenotypically varied
Hypogonadism, Sterility
3
Q
Agression
A
XYY
4
Q
Turners
A
XO
Short Stature, Swelling, webbed neck low set ears, low hairline
Amernorreha (no menses)
5
Q
of Chromosomes, # of Autosomes, # of Sex Chromosomes
A
46, 22 pairs, 2
6
Q
Common trisomies
A
21 - DS
22
18 - Edwards
13
