Genetic Disorders

GENETIC DISORDERS Genetic defects may occur either as a single gene defect or genetic syndromes. The commoner of the two groups are the single gene defects with examples as Tay-Sachs in the Jewish population, Sickle Cell disease in African-Americans and Latinos and...

Multifactorical Disorders and structural abnormalities

MULTI FACTORICAL DISORDERS AND STRUCTURAL ABNORMALITIES These are defects caused by an interplay of environmental factors and gene that is expressed usually as physical defects. The commonest physical defect are the open neural tube defects such as spinal bifida and...

Chromosomal Abnormalities

CHROMOSOMAL ABNORMALITIES Chromosomes are units of genetic information. Each individual have a complete set of chromosomes that is referred to as normal chromosomal complement. Abnormalities however may arise from a deficiency in either the total number of chromosomes...

Amniocentesis

Amniocentesis The main source of amniotic fluid is fetal urine. By analyzing a small sample of amniotic fluid, we can learn many things. For example, amniotic fluid studies can detect conditions such as Down syndrome, trisomy 18, trisomy 13 and other genetic...

Prenatal Diagnosis of sickle cell disease

PERENATAL DIAGNOSIS OF SICKLE CELL DISEASE Sickle cell disorder is the commonest single gene disorder among blacks. Sickle cell disease gene is found in about 25-50% of Nigerian Population. About 100,00 children are born annually with a serious Sickle cell disorder...

Down syndrome (Facts and screening)

PRENATAL SCREENING DOWN SYNDROME Down syndrome is the commonest form of chromosomal disorder worldwide. Down syndrome is the commonest cause of severe mental retardation. Every pregnant woman has a chance (risk of having a child with Down syndrome) The vast majority...
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