Sunday, February 6, 2011
Chromosome Number Abnormalities
7:00 AM | 
Posted by
Arif Siregar
Normal human somatic cells contain 46 chromosomes, a normal gamete contains 23 chromosomes. Normal somatic cells are diploid or 2n, normal gametes are haploid or n. Euploid refers to all the multiples of round n, for example, diploid or triploid. Aneuploid refers to all non-euploid chromosome number, the word is usually used if there is one additional chromosome (trisomy) or happen to lose one chromosome (monosomy). Abnormalities in chromosome number can be derived as meiotic or mitotic division. In meiosis, two members of one homologous chromosome pair would normally be separated during the first meiotic division so that each daughter cell receives one member of each pair. However, sometimes the separation does not occur (nondisjunction), and both members of a couple moving into one cell. As a result of nondisjunction of chromosomes, one cell receives 24 chromosomes, and the others received 22 rather than 23 (normal). If the moment of conception, a gamete which has 23 chromosomes unites with a gamete with 24 or 22 chromosomes, the result is an individual with 47 chromosomes (trisomy) or 45 chromosomes (monosomy). Nondisjunction that occurs during the first or second meiotic division in germinativum cells, can be of autosomal or sex chromosomes. In women, the incidence of chromosomal abnormalities, including nondisjunction, increases with age, especially at the age of 35 years or more.
Sometimes, nondisjunction occurs during mitosis (mitotic nondisjunction) in a cell embryo during the earliest stages of cell division. This situation produces mosaicism, ie some cells have an abnormal number of chromosomes and the other is normal. Affected individuals may exhibit little or a lot of characteristics of certain syndromes, depending on the number of affected cells and their distribution.
Sometimes chromosomes break, and pieces of one chromosome attaches to another chromosome. This translocation can be balanced, ie disconnection and reconnection occurs between two chromosomes, but there are no important genetic material is lost and the individual normal, or non-balanced, that is one part of a chromosome that forms disappear and be transformed phenotype.
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