HDFS 2113 Lecture 3: Biological Abnormalities

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Biological Abnormalities
Chapter 2 Continued
Chromosomal Abnormalities
Down Syndrome
Klinefelter Syndrome
Fragile X syndrome
XYY syndrome
Gene- Linked Abnormalities
Phenylketonuria (PKU) metabolic disorder that, left untreated, causes intellectual
disabilities
Sickle-cell Anemia blood disorder that limits the body’s oxygen supply
o Can cause joint swelling, as well as heart and kidney failure
Cystic fibrosis glandular dysfunction that interferes with mucus production
o Breathing and digestion are hampered, resulting in shortened life span
Diabetes body does not produce enough insulin, which causes abnormal
metabolism of sugar
Hemophilia delayed blood clotting causes internal and external bleeding
Huntington’s disease – central nervous system deteriorates, production problems in
muscle coordination and mental deterioration
Spina bifida neural tube disorder that causes brain and spine abnormalities
Tay-Sachs disease deceleration of mental and physical development caused by an
accumulation of lipids in the nervous system
Dealing with Genetic Abnormalities
Every individual carries DNA variation that might predispose the person to serious
physical disease or mental disorder
Genes that are missing, nonfunctional, or mutated can be associated with disorders
Knowledge of genetic flaws might bring important costs as well as benefits
Prenatal Diagnostic Tests
Ultrasound sonography
Brain imaging techniques
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