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In this lecture ´´Clinical Cytogenetics´´ is explained. Section one is about ´´Cell Cycle´´. Educator starts this section by explaining nuclear division - information distribution system. After that cell cycle in eukaryotes is elaborated. Then G1-S checkpoint is discussed. This is followed by G0 phase. Moving onward, synthesis phase is pursued. Lastly, duration of each phase is elucidated.
Mitosis and Meiosis
Section two is about ‘’Mitosis and Meiosis’’. Educator begins by comprehensively discussing mitosis: somatic cell division. After that prometaphase and kinetochore microtubules are illustrated. Then meiosis is elucidated. Following this, prophase of meiosis-I is explained. Furthermore, synapsis and recombination come under consideration. At last, information about karyotype is conveyed.
Overview of Chromosomal Changes
Section three is about ‘’Overview of Chromosomal Changes’’. Initially, changes in chromosome number and structure are elaborated. After that chromosomal aberrations are discussed. Then aneuploidy: errors in segregation are reported. This is followed by elucidation of X-chromosome inactivation in mammals. Moreover, polyploidy is explained. Next focus is on deletions and duplications. Moving onward, educator discusses changes in chromosome organization: inversions. Afterwards, inversion during synapses comes under consideration. Translocation is the next subject of discussion. Educator gives information about somatic mosaics. Finally, Y chromosome is discussed.
Changes in Chromosomal Number and Structure
Section four is about ‘’Changes in Chromosomal Number and Structure’’. Earlier in this section, chromosomal abnormalities are elaborated. After that laboratory diagnosis is carried out with the help of fluorescent in situ hybridization (FISH). Following this, characteristics of FISH are presented. Furthermore, chromosome aneuploidy is discussed. Likewise, triploidy is explained. Next focus is on sex chromosome aneuploid which include elucidation of Turner syndrome, Klinefelter syndrome, XXX syndrome, and XXY syndrome. Moving onward, trisomy is pursued. Educator gives information about trisomy 21 (Down syndrome) and trisomy 18 (Edwards syndrome). At the end, chromosome mosaicism is discussed.
Changes in Chromosomal Structure
Section five is about ‘’Changes in Chromosomal Structure’’. At first, changes in chromosome structure are elaborated. After that syndromes related to chromosomal structural changes are discussed. This include explanation of Wolf-Hirschhorn syndrome (4p-) and Cri-du-chat (5p-) syndrome. Then contiguous gene syndrome is elucidated. Lastly, clinical correlation is given along with the discussion of DiGeorge syndrome (DGS) and Shprintzen syndrome.