Study of Molecular Cytogenetic Analysis to Determine the Genetic Defect of a Patient

Shokri Ayad Halila1

1

Publication Date: 2023/04/07

Abstract: The Chromosomes are the Genetics of heredity. Humans have 23 pairs of Chromosomes in their Cells. As it takes 23 Chromosomes from the Father, and takes 23 Chromosomes from the Mother through Gametes. These Chromosomes are passed down through generations, through a Complex Mechanism. An imbalance occurs in the Chromosomes, through an increase in the Number, Deletion or Addition of genes, which results in Multiple Genetic Diseases. Including this Case, Which Was Exposed to The loss of Chromosome 10q26.13-q26. and the increase in Chromosome 19q13.43.919. This Chromosomal Imbalance Resulted in the following: She has a Beaked nose, Widening of the Base of the Noses, the Upper Lip Is thin, the Eyes are far apart and Strabismus, Body Movement is Generally Slow and Curved Fingers.

Keywords: Genetics. Chromosome. Chromosome10. Chromosome19. 10q26.13-q26.3. 19q13.43.9. Interstitial Deletion. Gain.

DOI: https://doi.org/10.5281/zenodo.7807324

PDF: https://ijirst.demo4.arinfotech.co/assets/upload/files/IJISRT23MAR671.pdf

REFERENCES

No References Available