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Harrison's Principles of Internal Medicine, 18e
| Part 3. Genes, the Environment, and Disease > |
Chapter 62. Chromosome Disorders
Sections: Chromosome Disorders: Introduction, Visualizing Chromosomes, Indications for Cytogenetic Analysis, Chromosome Abnormalities, Chromosomal Syndromes, Acquired Chromosome Abnormalities in Cancer, Further Readings.
Topics Discussed: chromosomal disorder; molecular biology of chromosome disorders.
Excerpt:"In humans, the normal diploid number of chromosomes is 46, consisting of 22 pairs of autosomal chromosomes (numbered 1–22 in decreasing size) and one pair of sex chromosomes (XX in females and XY in males). The genome is estimated to contain approximately 25,000 genes. Even the smallest autosome contains between 200 and 300 genes. Not surprisingly, duplications or deletions of chromosomes, or even small chromosome segments, have profound consequences on normal gene expression, leading to severe developmental and physiologic abnormalities...."
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