Chromosomal Aberration

Chromosomal abnormalities are much more common than generally appreciated. Approximately 50% of spontaneous miscarriages are due to chromosome abnormalities and the majority of pregnancies with a chromosome abnormality will not reach term. Approximately 90 per 10,000 live births have a recognizable chromosome abnormality (0.5-1%) We know that, these numbers of chromosomes is fixed in each species. In human the number is 46 (diploid-2n) in all somatic cells (46, XX female, 46, XY male) but 23 (haploid-n) in mature germ cells. Chromosomal abnormalities may be grossly divided into two types 1) Alteration in the number of chromosomes (Numerical aberration) 2) Alteration in the structure of chromosomes (Structural aberration) 1) Numerical abnormalities: I) Aneuploidy: The gain or loss of one or more chromosomes is known as aneuploidy. This abnormality usually results in early pregnancy loss but the presence of certain single extra chromosomes (trisomy) may be compatible with survival and give rise to distinct clinical syndromes. Somatic chromosome aneuploidy: Trisomy-21 (47XY+21) Downs syndrome Trisomy-18 (47XY+18) Edwards syndrome Trisomy-13 (47XY+13) Patans syndrome (II) Triploidy (3n): A complete extra set of chromosomes will raise the total number to 69 chromosomes and it is called triploidy. This usually arises from fertilization by two sperm or failure of one of the maturation divisions of either the egg or the sperm. This usually ends in spontaneous abortions. III) Tetraploidy (4n): This condition is usually due to failure to complete first zygotic division. It results in spontaneous abortions. Sex chromosome aneuploidies: Phenotypically male 47, XXY-----------------Klinefelters syndrome 47, XYY-----------------Asymptomatic male, often tall

Phenotypically female 47, XXX---------------------Trisomy X 45, XO-----------------------Turners syndrome. 2) Structural chromosomal abnormalities: i) ii) Translocation: Exchange of segments between non homologous chromosomes is known as translocation. Deletion: It means loss of segment of chromosome which is followed by a union of broken ends. In Cri-du-chat syndrome, part of the short arm of chromosome 5 is deleted. Inversion: A part of chromosome is detached and later unites with the same chromosome in inverted position. Iso-chromosome: The centromere of a chromosome splits transversely instead of longitudinal splitting. Ring chromosome: The chromosome is deleted at both ends and then deleted sticky ends adhere to each other in the form of a ring. Duplication: A portion of chromosome is added with homologous chromosome with duplication of gene. Recombination: During crossing over in meiosis, there is exchange of genetic material between homologous chromosomes which leads to recombination of genes.

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