why is karyotyping a major activity in medical genetics

Sometimes chromosomes are incorrectly distributed into the egg or sperm cells during
meiosis. When this happens, one cell may get two copies of a chromosome, while another
cell gets none. Incorrect distribution of chromosomes is called nondisjunction. If a sperm or egg cell with too many or too few chromosomes participates
in fertilization, it will produce a zygote with too many or too few chromosomes. A zygote with 3 copies
of a chromosome is said to have trisomy (pronounced TRY-so-mi). A zygote that is missing
a chromosome is said to have monosomy (MOH-no-so-mi). Most of the time, autosomal (non-sex chromosome) trisomy and monosomy are lethal because
the zygote ends up with too much or too little genetic information.


But sometimes,
babies are born with extra or missing autosomes most commonly one of the smaller
chromosomes that have fewer genes. Usually these babies have a genetic disorder,
which scientists can diagnose by looking for extra or missing chromosomes in a
When monosomy or trisomy involves sex chromosomes, individuals usually survive and many are quite healthy. RESEARCH MICROSCOPE WITH DIGITAL CAMERA Students and members of the faculty frequently utilize the Research Microscope With Digital Camera (BX 51 Olympus Research Microscope ) to take photographs of histopathological slides, smears etc. ,pertaining to their field of study with excellent clarity.


KARYOTYPING FOR THE PATIENTS FOR ACADEMIC SIGNIFICANCEвFree of cost As we have fully established cytogenetic lab at the MEDICAL GENETIC UNIT, MGMC&RI, Faculty members of various clinical department в (PAEDIATRICS, PAEDIATRIC SURGERY, OBGY, SURGERY, DERMATOLOGY, ENT, UROLOGY, OPHTHALMOLOGY & MEDICINE) come along with their PG students to learn the technique of karyotyping and put their patients Venous whole blood for culture and then go in for chromosomal analysis. They are trained under expertise and after due consultation with the Geneticist give their results. Cytogenetic study has how become a very important diagnostic tool for the clinicians at MGMC&RI for their research work, paper presentation and paper publication at Regional, National & International level.


So far we have identified 150 cases. RESEARCH PURPOSE We have also started doing karyotyping of the aborted fetus using CORD BLOOD CULTURE, LIVER TISSUE CULTURE AND BONE MARROW CULTURE to find out the chromosomal anomaly. We do the karyotyping for the patients for academic significance and for free of cost. With the present set up we have reported the following test as a supporting evidence for clinical diagnosis & patient care to the people of Puducherry community. This is a unit for GENETIC COUNSELING too. Karyotyping

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