2004, Number 1
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Med Sur 2004; 11 (1)
Genetic diseases. Part 1
Contreras CNA , Mancillas ALG
Language: Spanish
References: 12
Page: 4-12
PDF size: 311.19 Kb.
ABSTRACT
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 between 80,000 and 100,000 genes. Chromosomes are complex structures, consisting of the DNA double helix and chromosome associated proteins. Each human chromosome contains two specialized structures: a centromere and two telomeres. The centromere divides the chromosome into short (o) and long (q) arms and is responsible for the segregation of chromosomes during cell division. The associated diseases to number 1 chromosome abnormalities are multiple and very important in clinical practice.
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