The grand event of fertilisation marks the beginning of life, when the sperm unites with the egg.The single celled zygote thus formed receives all the necessary biological information for its conversion in to an embryo, a fetus & then an individual. The zygote receives this information in the form of 23 chromosomes (23,X) from the egg (mother) and 23 chromosomes (23, X or 23, Y) from the sperm (father). Chromosomes are the threads made up of DNA,and segments of this DNA that decide the individual characters are called as genes. Thus there are hundreds of genes on each chromosome. There are approximately 25000 such genes located on all chromosomes.
These genes decide everything about the life of the individual like “Whether the individual is male or female?, How long the individual will survive?, What will be the height, colour, appearance, intelligence etc? Whether the person will have any disease during lifetime?, Whether the person will be susceptible to certain disease due to environmental factors? Whether the person will be capable of reproduction?, etc.
Every normal individual has 46 chromosomes which can be seen in 23 pairs. In male, the last pair is XY, that decides the maleness; whereas in female it is XX,. Anything extra or less or altered than the normal will lead to a disease. Thus, abnormalities in the number or structure of chromosomes or those of genes will cause various health problems. These health problems can range from minor malformations which are compatible with life to major life threating disorders. Effect of genetic abnormalities can be seen at various stages of life.
Genetic disease affect nearly 3% of all newborns.
50% of all spontaneous abortions during first trimsester occur because of chromosomal abnormalities.
1 in every 150 newborns has some chromosomal abnormality.
6-7% of all stillborns & neonatal deaths are due to chromosomal abnormalities.
30% of childhood hospital admissions & 40-50% of all childhood death occur because of genetic diseases.
One in every 100 adults has a genetic problem.
8-10% of selected infertile couples have genetic problem.
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