MEDRADSC 1B03 Lecture Notes - Lecture 12: Cri Du Chat, Genetic Disorder, Spina Bifida
3 Sep 2018
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Present at birth (apparent at birth or shortly afterward) Single gene, multifactorial inheritance (cannot isolate 1 thing that contribute to the disease; multiple things are happening) or chromosomal aberrations (change in the normal amount of chromosomes: environmental factors during embryonic or fetal development. Maternal disease, infections, or drugs taken during pregnancy: rarely intrauterine factors. Fetal crowding (multiple babies, small person having a large baby), entanglement w umbilical cord. Defect passed from one generation to another by genes. Some are apparent at birth so they can also be classified as congenital . Caused by a change in 1 gene w in the reproductive cells. Common cause of spontaneous abortion; embryo that is developing that would not be okay in life. Problems occur depending on the information on the area of the chromosome that was affected. Klinefelter"s syndrome: one extra x chromosome for a male; bc of the extra x, individuals gonads are smaller (don"t have the same chromosomes being produced)
