Module 2 Genetics Flashcards
1
Q
Clinical Genetic Purpose
A
- Genetic disorder care
- Prenatal diagnosis
- Cancer genetics
- Newborn screening
- Metabolic genetics
- Population screening
2
Q
Load of Genetic Disease
A
- Miscarriages
- Congenital anomaly
- Chromosome anomaly
- Pediatric admissions
3
Q
Genotype
A
- Genetic makeup
4
Q
Phenotype
A
- Physical manifestation
- Inherited trait/disease
5
Q
New Dominant
A
- People with condition in each generation
- Males/females affected
- Forms of transmission
6
Q
Polycystic Kidney Disease
A
- Bilateral renal cysts
- Liver cysts
- Intracranial aneurysms risk
7
Q
Autosomal Recessive
A
- Equal males/females
- Sid ship in 1 generation
- Increase consanguinity
8
Q
Cystic Fibrosis
A
- European population prevalence
- CFTR gene mutation
9
Q
X-Linked Inheritance
A
- Mostly male affected
- Female carrier to son (possible)
- Male carrier to son (not possible)
- Carrier females mildly affected
10
Q
Males Affected by X-Linked
A
- 1 X chromosome
- Must express all x-linked genes
- Hemizygous
10
Q
Females Affected by X-Linked
A
- XX pairing
- Gene prevents symptoms
11
Q
Duchenne Muscular Dystrophy
A
- Affect males in 20’s
- Cannot reproduce
- Mutation inherited from mother/de novo
- Increase in spontaneous mutation (1/3)
12
Q
Mitochondrial DNA Disorders
A
- Inherited from mother in egg
- Mitochondria have own DNA
13
Q
Mitochondrial Multisystemic Disorders
A
- Diabetes
- Hearing loss
- Limited eye movement
- Cardiomyopathy
- Fatigue & low tone
- Cognitive dysfunction
- Feeding difficulties
- Constipation
14
Q
G-Banded Chromosomes
A
- Euploid
- Karyotype
15
Q
Chromosomal Disorders
A
- Numerical anomaly
- Structural anomaly
16
Q
Nondisjunction
A
- Meiosis I
- Most common trisomy 21 cause
17
Q
Trisomy 21
A
- 47 total chromosomes
- XY
- Third 21st chromosome
18
Q
Down Syndrome
A
- Extra 21st chromosome
- Distinct facial features
- Developmental delay
- Heart defects
19
Q
Trisomy 21 Severity
A
- Nondisjunction (highest)
- Translocation
- Mosaic (mild)
20
Q
Structural Anomalies
A
- Recombination error
- Balanced or unbalanced
21
Q
Balanced Reciprocal Translocation
A
- No clinical effects for carrier
- Risk for stillbirths/miscarriages
22
Q
Trisomy 13
A
- Patau syndrome
- Midline defects
- Cleft palate
- Extra finger
- Developmental delay
- Death within first year of life
23
Q
Trisomy 18
A
- Edward syndrome
- Majority female
- Cardiac defects
- Developmental delay
- Death within first year of life
24
Q
Turner Syndrome
A
- 45X
- Puffy hands & feet at birth
- Webbed neck
- Coarctation of aorta
- Short stature
- Amenorrhea & infertility
- Normal intelligence
25
Q
Klinefelter Syndrome
A
- 47 XXY
- Tall stature
- Gynecomastia (large breast)
- Small testes
- Learning disability prone
- Infertility
