Section 2 Flashcards
0
Q
Nondisjunction
A
Is when chromosomes failed to separate
1
Q
Single gene disorders
A
- Single gene disorders occur at a specific single site on the strand of DNA as a result of:
- deletion
- duplication
- inversion
- insertion
- translocation
2
Q
Monosomy
A
Occurs when nondisjunction results in cells with one copy of a chromosome instead of two
3
Q
Trisomy
A
Refers to the presence of three copies of chromosomes in a cell
4
Q
Multi-factorial disorders
A
The result of gene defect influenced by environmental factors
- alcohol
- tobacco
- drugs
- hormones
- maternal and paternal age health and attitude
- ex = Cleft lip/palate, clubfoot, hypertension, coronary artery disease, diabetes, and many cancers
5
Q
Developmental disorders
A
- Disorders that occur after conception
- The risk of damage to a developing child is greatest during the embryonic period ( 3-8 weeks)
- substances that can cause damage are teratogens
6
Q
Fetal alcohol syndrome
A
- significant mental handicap leading cause of retardation in the US
- growth deficit
- physical disability
7
Q
Maternal infection
A
The Group of diseases which causes disorders are known as TORCH
- T - toxoplasmosis
- O - other
- R - rubella - deafness; congenital heart defect’s
- C - cytomegalovirus
- H - herpes
8
Q
Genetic screening
A
- This is done when a genetic defect is suspected
- usually when a woman has had three or more spontaneous abortions
- counseling can occur in families at risk or when an affected child is born
9
Q
Sickle cell anemia
A
slide
10
Q
Sickle cell crisis
A
- precipitated by infection and hypoxia
- treatment is aimed at preventing infection
- pain management is important
- blood transfusions may be required RBCs
- future treatments may be gene therapy and bone marrow transplants
