Module 14: Critical Issues during Prenatal Development Flashcards
What are the chromosomal abnormalities that may develop during prenatal development?
- Down Syndrome (Trisomy 21)
- Klinefelter Syndrome
- Fragile X Syndrome
- Turner Syndrome (Monosomy X)
- XYY Syndrome (Jacob’s Syndrome)
- Edward’s Syndrome (Trisomy 18)
- Patau’s Syndrome (Trisomy 13)
Down Syndrome (Trisomy 21)
Extra copy of chromosome 21
Klinefelter Syndrome
Extra X Chromosome (XXY)
Fragile X Syndrome
Abnormality in X chromosome causes ID
Turner Syndrome (Monosomy X)
Missing X chromosome for females
XYY Syndrome (Jacob’s Syndrome)
Extra Y chromosome
Edward’s Syndrome (Trisomy 18)
Extra copy of chromosome 18
Patau’s Syndrome (Trisomy 13)
Extra copy of chromosome 13
Treatment of Down Syndrome (Trisomy 21)
Surgery, SPED
Treatment of Klinefelter Syndrome
Hormone Therapy
Treatment of Fragile X Syndrome
SPED, Speech Therapy
Treatment of Turner Syndrome (Monosomy X)
Hormone Therapy
Treatment of XYY Syndrome (Jacob’s Syndrome)
no treatment
Treatment of Edward’s Syndrome (Trisomy 18)
no treatment
Treatment of Patau’s Syndrome (Trisomy 13)
no treatment
What are the gene-linked abnormalities that can occur during prenatal development?
- Cystic Fibrosis
- Diabetes
- Hemophilia
- Huntington’s
- Phenylketonuria
- Sickle-Cell Anemia
- Spina Bifida
- Tay-Sachs Disease
- Anencephaly
- Polycystic Kidney Disease
- Alpha antitrypsin Deficiency
- Alpha Thalassemia
- Beta Thalassemia (Cooley’s Anemia)
- Duchenne Muscular Dystrophy
Cystic Fibrosis
Overproduction of mucus in the lungs and digestive tract
Diabetes
Does not produce enough insulin
Hemophilia
Delayed blood clotting
Huntington’s
CNS deteriorates producing problem in muscles and mental decline
Phenylketonuria
Build up of Phenylalanine in the body
Sickle-Cell Anemia
Limits body oxygen supply
Spina Bifida
Incompletely closed spinal canal
Tay-Sachs Disease
Accumulation of lipids in the NS
Anencephaly
Absence of brain tissue
Polycystic Kidney Disease
Enlarged Kidneys
Alpha antitrypsin Deficiency
Cirrhosis of the liver in early infancy
Alpha Thalassemia
Severe Anemia; nearly all die soon after birth
Beta Thalassemia (Cooley’s Anemia)
Severe Anemia; fatal in adolescence or Young adulthood
Duchenne Muscular Dystrophy
Males with muscle weakness, minor mental retardation
Treatment of Cystic Fibrosis
Physical Therapy
Treatment of Diabetes
Insulin
Treatment of Hemophilia
Blood transfusions
Treatment of Huntington’s
no treatment
Treatment of Phenylketonuria
Special Diet
Treatment of Sickle-Cell Anemia
Penicillin, Antibiotics, Pain Reliever
Treatment of Spina Bifida
Surgery
Treatment of Tay-Sachs Disease
Medication, Special Diet
Treatment of Anencephaly
no treatment
Treatment of Polycystic Kidney Disease
Kidney Transplant
Treatment of Alpha antitrypsin Deficiency
No treatment
Treatment of Alpha Thalassemia
Frequent Blood Transfusion
Treatment of Beta Thalassemia (Cooley’s Anemia)
Blood Transfusions
Treatment of Duchenne Muscular Dystrophy
no treatment