Biotech 1 Rotation 2 - Genetics (Kelly)
5.0(1)
Studied by 3 people
Learn
Practice Test
Spaced Repetition
Match
FlashcardsCard Sorting
1/22
Study Analytics
Name | Mastery | Learn | Test | Matching | Spaced |
|---|
No study sessions yet.
23 Terms
1
New cards
Expansion Diseases
Huntington’s & Fragile X
2
New cards
Achondroplasia
auto dominant - enlarged head with a prominent forehead
3
New cards
Sickle Cell
auto recessive -
red blood cells inflexible and misshaped - pain & fatigue
red blood cells inflexible and misshaped - pain & fatigue
4
New cards
Male pattern baldness
x-linked recessive
5
New cards
Colorblindness
x-linked recessive
6
New cards
PKU
auto recessive - reduced cognitive function - change diet
7
New cards
Cystic Fibrosis
auto recessive - lung infections including pneumonia or bronchitis
8
New cards
Hemophilia
x-linked recessive -
Lack of clotting factor leads to frequent small bleeds from very minor injuries
Lack of clotting factor leads to frequent small bleeds from very minor injuries
9
New cards
Muscular Dystrophy
x-linked recessive - muscle(leg) weakness
10
New cards
Marfan
auto dominant - connected muscles
11
New cards
Huntington’s
auto dominant - muscle problems, slow or unusual eye movements
12
New cards
Neurofibromatosis
auto dominant - Café au Lait Spot
13
New cards
Fragile X
x-linked dominant - narrow face , large ears, prominent jaw and forehead
14
New cards
Multifactorial
ADHD, Alzheimer's, Allergies, Anxiety, Arthritis, Asthma, Autism, Cancer, Crohn’s, Cleft Lip And Palate, Depression, Dyslexia, Diabetes, Cancer, Heart Malformations, Heart Attack, Height, Hypertension, IQ, Obesity, Parkinson’s, Stroke
15
New cards
Trisomy
47 XX,+21
16
New cards
Monosomy
45 XY,-3
17
New cards
Turner Syndrome
45X - monosomy - short stature
18
New cards
Sex chromosome abnormality
47 XXY
19
New cards
Deletion
46,XX del(5p)
20
New cards
Duplication
46 XY, dup(8p)
21
New cards
Translocation
46 XX, t(3;9)
22
New cards
Inversion
46,XY inv(3)(p24:q21)
23
New cards
Triploidy
69,XXX