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Chapter-06 Genetic Disorders

BOOK TITLE: A Short Textbook of Pathology

Author

1. Sajal Md Tahminur Rahman
2. Charu Hosne Ara Tahmin
3. Sajani Tabassum Tahmin
4. Sarnali Tanjila Tahmin

ISBN

9789350904640

DOI

10.5005/jp/books/11956_6

Edition

2/e

Publishing Year

2013

Pages

Author Affiliations

1. Modern Diagnostic Center Limited, Dhaka, Bangladesh
2. Dhaka Medical College, Dhaka, Bangladesh
3. Bangladesh Medical College, Dhaka, Bangladesh
4. Anwer Khan Modern Medical College, Dhaka, Bangladesh

Chapter keywords

gene, genetics, DNA, RNA, mutation, autosomal dominant, autosomal recessive, sex linked dominant, sex linked recessive, multi factorial inheritance

Abstract

Abstract

This chapter deals with a short description of different terminologies used in genetics like gene, genomes, DNA, RNA, mutation and its types, features of different types of Mendellian disorders with examples, some common genetic syndromes like Down syndrome, Turner syndrome and Klinefelter syndrome and indications of pre-natal, natal and post natal counseling and diagnostic modalities.

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