#THE FUTURE OF CYTOGENETICS#
The future of cytogenetics in the medical world (part 1)
I will love to quickly discuss about chromosomal abnormalities. Chromosomal abnormalities can be defined as an error in chromosomal DNA, which can be numerical or structural. Chromosomal abnormalities usually occurs when there is an error or non disjunction in cell division during mitosis or meiosis.
And they can be divided into two groups, which are numerical disorder (also called aneuploidy) and structural disorder.
Aneuploidy comes as a result of missing a chromosome from a pair (monosomy) or has more than two chromosome of a cell(trisomy,tetrasomy etc). Examples include Down syndrome which is the most common.
Structural abnormalities comes as a result of an alteration in chromosome structure. And they are divided into duplication (portion of a chromosome been duplicated), deletion (missing or deleted Portion of a chromosome), translocation (A portion of one chromosome is transferred to another chromosome), inversion (A portion of the chromosome has broken off, turned upside down, and reattached, therefore the genetic material is inverted), insertion and others.
Chromosomal abnormalities are most of the times found out by the process called Karyotyping. Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells. ( by google)
Cytogenetics is a branch of genetics that is concerned with how the chromosomes relate to cell behaviour, particularly to their behaviour during mitosis and meiosis. Karyotyping is of the most common techniques use in cytogenetics, others which includes G-banded chromosomes and molecular cytogenetics (as fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH).
In the event of procedures which allowed easy enumeration of chromosomes, discoveries were quickly made related to aberrant chromosomes or chromosome number. In some congenital disorders, such as Down syndrome, cytogenetics revealed the nature of the chromosomal defect: a "simple" trisomy. Abnormalities arising from nondisjunction events can cause cells with aneuploidy (additions or deletions of entire chromosomes).Other numerical abnormalities discovered include sex chromosome abnormalities. A female with only one X chromosome has Turner syndrome, whereas an additional X chromosome in a male, resulting in 47 total chromosomes, has Klinefelter Syndrome. Many other sex chromosome combinations are compatible with live birth including XXX, XYY, and XXXX.
Studies of Down's syndrome covering a period of 9 years revealed an incidence of 1 in 865 livebirths in a Nigerian hospital. Cytogenetic analysis in 386 patients showed 369 (95.5%) cases to be the result of regular trisomy 21, and translocation trisomy 21 was found in nine (2.5%) patients. Six (1.5%) patients were mosaics and the remaining two (0.5%) cases were classified as miscellaneous. (From google)
Cytogenetics has really helped in the medical world to reduce these syndromes, either by therapy after birth or abortion of the pregnancy. Seeing kids with this syndromes on the street,not well catered for and as well as maltreated just because of there deficiency which is not there fault. I really hope people could understand this part of abnormality and stop criticising the carrier..because it isn't there fault. .and it can happen to anyone. Let's treat them with care and show them more love. That's the best we can offer.
it really hurts my soul, and I solemnly believe the eradication of these syndromes lies in Cytogenetics. The future is bright and as a potential geneticist I wish to make more impacts with this.