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Chapter-19 Genetics

BOOK TITLE: Exam Preparatory Manual for Undergraduates: Medicine

Author
1. Nayak Ramadas
2. Boloor Archith
ISBN
9789386056610
DOI
10.5005/jp/books/14224_20
Edition
1/e
Publishing Year
2018
Pages
16
Author Affiliations
1. Kasturba Medical College, Mangalore, Manipal University, Karnataka, India, Kasturba Medical College, Manipal University, Mangalore, Karnataka, India, Yenepoya Medical College, Constituent of Yenepoya University (Accredited by NAAC with "A" grade), Mangaluru, Karnataka, India, Yenepoya Medical College, Yenepoya University, Mangaluru, Karnataka, India, Yenepoya Medical College, Yenepoya University (Accredited by NAAC with “A” grade), Mangaluru, Karnataka, India
2. Kasturba Medical College, Manipal University, Mangaluru, Karnataka, India
Chapter keywords
Genetic, chromosomal disorder, Down syndrome, Klinefelter’s syndrome, Turner’s syndrome, mental retardation, gene therapy

Abstract

This chapter is written in the question and answer format, which gives the description on the genetics. This chapter covers the common genetic and chromosomal disorders, Down syndrome (trisomy 21), Klinefelter’s syndrome, Turner’s syndrome, mental retardation or insufficiency, inheritance, gene therapy, human genome project, and miscellaneous. Normal cells are diploid containing 46 chromosomes, 22 pairs of autosomes and 1 pair of sex chromosomes. The 23 chromosomes (22 autosomes and one sex chromosome) constitute a haploid. Any exact multiple of the haploid number is called euploid. The total number of chromosomes may be either increased or decreased. The deviation from the normal number of chromosomes is called as numerical chromosomal aberrations. Klinefelter’s syndrome is sex chromosomal abnormality and is the most important genetic disease involving trisomy of sex chromosomes. Turner’s syndrome is a sex chromosomal abnormality. Turner’s syndrome is characterized by a spectrum of abnormalities due to complete or partial monosomy of the X chromosome in a phenotypic female.

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