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Chapter-09 Genetic Disorders

BOOK TITLE: Textbook of Pathology for Allied Health Sciences

Author
1. Nayak Ramadas
ISBN
9789352701070
DOI
10.5005/jp/books/14184_10
Edition
1/e
Publishing Year
2017
Pages
6
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
Chapter keywords
Mendelian disorder, chromosomal aberration, polygenic disorder, autosomal dominant, X-linked dominant, X-linked recessive, numerical chromosomal aberration, structural chromosomal aberration, Klinefelter syndrome, Turner syndrome

Abstract

Genetics is the study, which deals with the science of genes, heredity and its variation in living organisms. Mendelian disorders/single gene or monogenic disorders, chromosomal aberrations, and Complex/multifactorial multigenic/polygenic disorders are three classifications of genetic disorders. Autosomal dominant pattern of inheritance, autosomal recessive pattern of inheritance, X-linked dominant pattern of inheritance, and X-linked recessive pattern of inheritance are four different types of Mendelian disorders, which are given in this chapter. Numerical chromosomal aberrations and structural chromosomal aberrations are classification of chromosomal aberrations. Trisomy 21 (Down syndrome), Klinefelter syndrome, and Turner syndrome are three different types of polygenic disorders, which are provided in this chapter. Four well-leveled figures related to the types of chromosomal rearrangements, clinical features of Down syndrome, features of Klinefelter syndrome, and clinical features of Turner syndrome are also presented in this chapter.

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