Discover the Down Syndrome


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Genetics - the Biology of Inheritance

A disease caused by any abnormality in adisorder include muscular dystrophy and
person's genes or chromosomes is called acystic  fibrosis.
genetic disorder. Several diseases have a
genetic  side  to  them.Complex disease is the most common type of
genetic disorder. In these disorders, gene
Some genetic disorders are inherited. Sincemutation does not cause the disease, just
you inherit genes from your parents, you mayincreases the predisposition to the disease.
also inherit any abnormality in the gene.Heart disease, obesity and Alzheimer's
That is one of the tenets of genetics, thedisease are examples of complex disease.
branch of biology associated with the studyChromosomal disorders occur because of
of genes and their effects. A gene that hasabnormalities in the structure or number of
undergone a mutation (alteration) is passedchromosomes. Down's syndrome and Klinefelters
down through a family and the geneticsyndrome are prime examples of these
disorder caused by the mutated gene candisorders.
affect children of all the subsequent
generations. These mutations, or alterations,Down's syndrome, also referred to as Trisomy
in genes can occur due to exposure to21, is a genetic disorder caused by the
environmental toxins or may occur randomly.presence of an extra 21st chromosome. The
Genetic disorders are also caused byeffect of the extra 21st chromosome varies
abnormalities in the structure and functiongreatly, depending on whether the extra
of chromosomes. It is imperative to note thatstrand is present is full or parts, genetic
not all genetic disorders are inherited.history, and pure chance. Down's syndrome is
Some, like Down's syndrome, occur as isolatedcharacterized by some abnormality of
random  incidents.cognitive ability, physical growth, and
facial appearance. Some of the common
Genetic disorders account for a large numberphysical features of a person with Down's
of diseases, and can present in various ways.Syndrome include a single transverse palmar
The most widely known genetic disorders arecrease, instead of two, an almond shape to
Down's syndrome, Klinefelter's syndrome,the eyes, shorter limbs, poor muscle tone, a
sickle cell anemia and spina bifida. Geneticlarger than normal space between the big and
disorders can often be lethal or maysecond toes, and a protruding tongue.
sometimes cause conditions that need aIndividuals with Down's syndrome also have
significant medical attention. More than 6000specific health concerns such as a higher
genetic disorders have been identified tillrisk for congenital heart defects, recurrent
date.ear  infections,  and  thyroid  dysfunctions.
Genetic  Disorders  can  be  classified  asKlinefelter's syndrome is caused by the
presence of an extra X sex chromosome. The
*  Single  gene  disordersmain result is the presence of small testes
and reduced fertility. Other physical and
*  Complex  diseasebehavioral problems are common, though the
severity varies. It is the second most common
*  Chromosomal  disordersextra  chromosomal  disorder.
Single gene disorders occur because of oneThe biology behind genes and chromosomes and
defective gene. These disorders are uncommonpatterns of inheritance is yet to be
and the biology behind them is not fullycompletely deciphered. Genetics throws up
understood. Examples of this type of geneticinteresting mysteries every now and then.



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