What are the two stages of development of the Greek Civilization

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Genetic Disorder

Genotype

Phenotypic Effects

Down syndrome

extra copy (complete or partial) of chromosome 21 (see Figurebelow)

developmental delays, distinctive facial appearance, and other abnormalities (see Figure below)

Turner’s syndrome

one X chromosome but no other sex chromosome (XO)

female with short height and infertility (inability to reproduce)

Triple X syndrome

three X chromosomes (XXX)

female with mild developmental delays and menstrual irregularities

Klinefelter’s syndrome

one Y chromosome and two or more X chromosomes (XXY, XXXY)

male with problems in sexual development and reduced levels of the male hormone testosterone


Diagnosing Genetic Disorders

Professionals known as genetic counselors can help understand the risks if a children is being affected. If someone has a genetic disorder, they may be advised to have prenatal (“before birth”) testing to see if the fetus has any genetic abnormalities. One method of prenatal testing is amniocentesis. In this procedure, a few fetal cells are extracted from the fluid surrounding the fetus, and the fetal chromosomes are examined.

Treating Genetic Disorders

The symptoms of genetic disorders can sometimes be treated, but cures for genetic disorders are still in the early stages of development. One potential cure that has already been used with some success is gene therapy. This involves inserting normal genes into cells with mutant genes.



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