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Flashcards in Genetic Mechanism of Disease Deck (7):
0

Down Syndrome

Trisomy 21
Physical growth delays
Mild to moderate intellectual disability
Low muscle tone, increased skin at back of neck, umbilical hernia

1

Monosomies

21, 22

2

Klinefelters

XXY
Geneotypically male, phenotypically varied
Hypogonadism, Sterility

3

Agression

XYY

4

Turners

XO
Short Stature, Swelling, webbed neck low set ears, low hairline
Amernorreha (no menses)

5

# of Chromosomes, # of Autosomes, # of Sex Chromosomes

46, 22 pairs, 2

6

Common trisomies

21 - DS
22
18 - Edwards
13