CMMB 413 Lecture Notes - Lecture 2: Congenital Disorder, Chromosome Abnormality, Cytogenetics
19 Jan 2019
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The principles of clinical cytogenetics part 1. Clinical cytogenetics is the practice of medical genetics by studying the structure and number of chromosomes to identify chromosome abnormalities (disorders) Cytogeneticists want to look at changes in chromosome numbers. Sometimes there are subtle changes in chromosome structure which can lead to deletions and insertions in certain parts of the chromosome. Chromosome disorders is a major category of genetic diseases. These births carry some sort of congenital disorder resulting from a genetic defect. Aneuploidy: talking about genomic instability which accounts for at least half of the 1% congenital diseases. Almost all cancer patients have aneuploidy issues, so this (aneuploidy) doesn"t just affect congenital diseases. About 2/3 of cases are due to changes in chromosome structure. 2% of pregnancies in women over 35 years of age. In different populations of people, start to realize that about 2% of pregnancies in women over 35 ears of age result in genetic disorder.
