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Chapter-16 Genetics and Congenital Abnormalities (Dysmorphology and Teratogenesis)

BOOK TITLE: Essentials of Human Genetics

Author
1. Purandarey Hema
ISBN
9788184485356
DOI
10.5005/jp/books/10279_16
Edition
2/e
Publishing Year
2009
Pages
16
Author Affiliations
1. Nicholas Piramal Group of Laboratories, Mumbai, India, Birth Defects Center, Mumbai, Maharashtra, India, Centre for Genetic Health Care, SRL Diagnostic Services Private Limited (Genetics), Mumbai, Maharashtra, India, Medgenome Centre for Genetic Healthcare, Mumbai, Maharashtra, India
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Abstract

Birth defects may occur due to genetic/ chromosomal abnormalities or environmental factors or a combination of both. Congenital anomalies may be classified as malformations, disruptions, deformities and grouped as a sequence or a syndrome. Chromosomal abnormalities may be structural or numerical. Some examples of environmental factors include infections like rubella and CMV, radiation, prenatal chemical/drug exposure of thalidomide and antiepileptic drugs, hormones such as diethylstilbesterol, maternal disease such as diabetes and PKU and hypoxia.

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