Genetic Counseling
Genetic counselling is a communication process, which aims to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions - Australasian Society of Genetic Counsellors (ASGC).
Read MoreCytogenetics of Down's Syndrome
DOWN SYNDROME
Down syndrome is a genetic disorder and the most common autosomal chromosome abnormality in humans, where extra genetic material, chromosome 21 is transferred to a newly formed embryo. These extra genes and DNA causes changes in the development of the embryo and fetus resulting in physical and mental abnormalities.
Types of Down Syndrome:
- Trisomy 21 (95%) – The extr Read More
Acute lymphoblastic leukemia targeting FLT3 mutation
FLT3 mutation
“Genes are like the story, and the DNA is the language that the story is written in,” says Sam Kean. This 8-letter word 'Mutation' stands for any alteration in the inherited nucleic acid sequence of the genotype of an organism. We continuously sacrificing some individuals to mortality from unfavourable mutation. Bemoaning this imperfection of nat
Read MoreCytogenetics of Acute lymphoblastic leukemia
Cytogenetics in Acute Lymphoblastic Leukemia
The cytogenetics helps in the detection of the chromosomal aberrations including both the numerical and the structural abnormalities. About 70 to 75% of the samples that are cytogenetically analysed are usually successful and about one third of the cases are mostly unambiguous. In addition to this, in case of c
Read MoreGenetic Counseling on Dravet Syndrome
Dravet Syndrome
Dravet syndrome(DS) also called as “SMEI” i.e., Severe Myoclonic epilepsy of Infancy. It is a rare form of epilepsy disorder that begins in early infancy of the individual and the impact prolongs into th
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