Genetic

Infertility is defined as the inability to conceive after one year of regular unprotected sexual intercourse. Evaluation of infertile couple should then be initiated and this would include semen analysis, assessment of ovulation and tubal patency test. Diagnosis of unexplained infertility is made when all these tests are normal. This diagnosis comprises 15% to 30% of all the infertility cases.

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Introduction Every cell in our body goes through a series of events, named cell cycle. This cell cycle leads to its growth, division and duplication in order to produce two daughter cells. In eukaryotic cells (cell with a nucleus), the cell cycle are divided into two main periods: interphase and …

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Meiosis occurs in ovaries and testes, where a single cell divides twice to produce four cells containing half the original amount of genetic information. These cells are our sex cells – sperm in males, eggs in females.

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Klinefelter syndrome is a chromosomal condition that affects males, whom are born with at least one extra X chromosome. Chromosomes, found in all body cells, contain genes. Genes provide specific instructions for body characteristics and functions.

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Karyology is the study of whole sets chromosome by referring to its standard format known as karyogram or ideogram. Cells collected from individual are induced to divide and the arrested at metaphase stage (a stage in cell division) where the chromosomes are condensed and visible.

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Introduction DiGeorge Syndrome also known as 22q11.2 deletion syndrome is a disorder caused by the deletion of a small region of chromosome 22. The deletion occurs at q arm (long arm) on chromosome 22 at location q11.2. Figure 1: Chromosome 22 There are many symptoms that reflect DiGeorge Syndrome. It …

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Introduction In cell’s nucleus, DNA is tightly coiled with histone protein and is packaged into thread-like macromolecule called Chromosome. “Chromosome” is derived from Greek word “ Chroma (colour), Soma (body)” History of Discovery 1866: Gregor Mendel discovered Mendel’s Laws of Inheritance from his work with peas hybridization 1882: Wather Flemming …

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Cytogenetics is the field of studying chromosomes structure and composition. For diagnostic purposes, cytogenetic test is able to detect abnormalities of human chromosomes’ gross structures and counts. Cases that are relevant to cytogenetic testing include Ambiguous Genitalia Newborns with birth defect Dysmorphism Infertility Mental Retardation Patients’ samples for cytogenetics test …

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