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Feldman Dals Ch02 PR
Feldman Dals Ch02 PR
Chapter 2
The Start of Life: Prenatal
Development
LO 2.1: Describe how genes and chromosomes provide our basic genetic endowment.
LO 2.2: Compare monozygotic twins with dizygotic twins.
LO 2.3: Describe how the sex of a child is determined.
LO 2.4: Explain the mechanisms by which genes transmit information.
LO 2.5: Describe the field of behavioral genetics.
LO 2.6: Describe the major inherited disorders
LO 2.7: Describe the role of genetic counselors and differentiate between different forms of prenatal testing.
Disease Description
Adult polycystic kidney disease Kidney failure and liver disease
Alpha-1-antitrypsin deficiency Emphysema and liver disease
Alzheimer’s disease Late-onset variety of senile dementia
Amyotrophic lateral sclerosis (Lou Progressive motor function loss leading to
Gehrig’s disease) paralysis and death
Ataxia telangiectasia Progressive brain disorder resulting in loss of
muscle control and cancers
Breast and ovarian cancer (inherited) Early-onset tumors of breasts and ovaries
Charcot-Marie-Tooth Loss of feeling in ends of limbs
Congenital adrenal hyperplasia Hormone deficiency, ambiguous genitalia and
male pseudohermaphroditism
Cystic fibrosis Thick mucus accumulations in lungs and
chronic infections in lungs and pancreas
Disease Description
Duchenne muscular dystrophy (Becker Severe to mild muscle wasting, deterioration,
muscular dystrophy) weakness
Dystonia Muscle rigidity, repetitive twisting movements
Factor V-Leiden Blood-clotting disorder
Fanconi anemia, group Anemia, Leukemia, skeletal deformities
Fragile X syndrome Mental retardation
Gaucher disease Enlarged liver and spleen, bone degeneration
Hemophilia A and B Bleeding disorders
Early-onset tumors of colon and sometimes
Hereditary nonpolyposis colon cancera
other organs
Progressive neurological degeneration, usually
Huntington’s disease
beginning in midlife
Disease Description
Myotonic dystrophy Progressive muscle weakness
Multiple benign nervous system tumors that
Neurofibromatosis, type 1
can be disfiguring; cancers
Phenylketonuria Progressive mental retardation due to missing
enzyme; correctable by diet
Decreased motor skills, cognitive impairment,
Prader Willi/Angelman syndromes
early death
Sickle-cell disease Blood cell disorder chronic pain and infections
Severe, usually lethal progressive muscle-
Spinal muscular atrophy
wasting disorder in children
Involuntary muscle movements, reflex
Spinocerebellar ataxia, type 1
disorders, explosive speech
Seizures, paralysis, fatal neurological disease
Tay-Sachs disease
of early childhood
Thalassemias Anemias
Technique Description
Amniocentesis Done between the fifteenth and twentieth week of pregnancy, this
procedure examines a sample of the amniotic fluid, which contains fetal
cells. Recommended if either parent carries Tay-Sachs, spina bifida, sickle-
cell, Down syndrome, muscular dystrophy, or Rh disease.
Chorionic villus Done at 8 to 11 weeks, either transabdominally or transcervically,
sampling (CVS) depending on where the placenta is located. Involves inserting a needle
(abdominally) or a catheter (cervically) into the substance of the placenta
but staying outside the amniotic sac and removing 10 to 15 milligrams of
tissue. This tissue is manually cleaned of maternal uterine tissue and then
grown in culture, and a karyotype is made, as with amniocentesis.
Embryoscopy Examines the embryo or fetus during the first 12 weeks of pregnancy by
means of a fiber-optic endoscope inserted through the cervix. Can be
performed as early as week 5. Access to the fetal circulation may be
obtained through the instrument, and direct visualization of the embryo
permits the diagnosis of malformations.
Technique Description
Fetal blood sampling Performed after 18 weeks of pregnancy by collecting a small amount of
(FBS) blood from the umbilical cord for testing. Used to detect Down syndrome
and most other chromosome abnormalities in the fetuses of couples who
are at increased risk of having an affected child. Many other diseases can
be diagnosed using this technique.
Sonoembryology Used to detect abnormalities in the first trimester of pregnancy. Involves
high-frequency transvaginal probes and digital image processing. In
combination with ultrasound, it can detect more than 80 percent of all
malformations during the second trimester.
Uses ultrasound to produce a visual image of the uterus, fetus, and
Sonogram
placenta.
Uses very high frequency sound waves to detect structural abnormalities or
Ultrasound multiple pregnancies, measure fetal growth, judge gestational age, and
sonography evaluate uterine abnormalities. Also used as an adjunct to other procedures,
such as amniocentesis.
LO 2.8: Explain how the environment and genetics work together to determine human characteristics.
LO 2.9: Summarize how researchers study the interaction of genetic and environmental factors in development.
LO 2.10: Explain how genetics and the environment jointly influence physical traits, intelligence, and personalit
LO 2.11: Explain the role genetics and the environment play in the development of psychological disorders.
LO 2.12: Describe ways in which genes influence the environment.