Genetics and Neurobiology of Down Syndrome

Genetics and Neurobiology of Down Syndrome

1st Edition - August 1, 2022

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  • Author: Bani Ganguly
  • Paperback ISBN: 9780323904568

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Genetics and Neurobiology of Down Syndrome provides a thorough review of the genetic etiology and mechanisms of trisomy 21. The author discusses the history of the syndrome, along with the clinical features and health consequences, including physical features, cognitive, and neurologic symptoms. Genetic counseling on pros and cons of prenatal screening and testing and associated ethical issues are explored. This unique book also covers the societal and demographic aspects as well as the future direction of therapeutic development.

Key Features

  • Reviews genetic etiology and mechanisms of trisomy 21
  • Discusses prenatal screening and genetic counseling, including ethical aspects
  • Explores link between Down Syndrome and susceptibility to Alzheimer’s and early brain aging
  • Covers cognitive and neurological symptoms and other health consequences
  • Identifies future therapeutic developments


Researchers and clinicians in neuroscience, genetics, and biomedicine

Table of Contents

  • 1. History and overview 
    Sex ratio 
    What other names do people use for Down syndrome? 
    Can Down syndrome be inherited? 
    Secular trends and racial and ethnic variations 

    2. Congenital features and health aspects  
    Endocrinology of thyroid 
    Gastro-intestinal complications 
    Pattern of growth 
    Ophthalmology and otolaryngeology 
    Life-span of individuals with Down syndrome 
    Attention to be paid for health monitoring of Down syndrome 
    At Birth 
    Childhood and adulthood 
    Fertility of Down syndrome 

    3. Prenatal screening, testing Procedures and genetic counseling 
    Prevention and screening 
    Chronological development of preventive approach 
    Genetic counseling 
    Pre-conception screening and prenatal diagnosis 
    Anticipated issues of prenatal screening 
    Pros and cons of prenatal genetic screening and testing 
    Ethical aspects 

    4. Genetic cause of down syndrome 
    Occurrence of trisomy 21 
    Classical Down syndrome 
    Variant Down syndrome 
    Mosaic Down syndrome 
    Trisomy 21 with Robertsonian translocation  
    Balanced translocation 
    Partial duplication of chromosome 21 

    5. Demographic and other factors that induce non-disjunction 
    Maternal age 
    Antenatal complexity 
    Environmental and lifestyle factors 
    Point of meiotic cross-over  

    6. Research on Down syndrome-related genes 
    Expression of trisomy 21 in animals 

    7. Neurobiology of Down Syndrome  
    -Alzheimer’s Disease 
    -GABAergic transmission, noradrenergic neuronal loss, anomalous glutamatergic transmission and N-methyl-d-aspartate receptor signalling, mitochondrial dysfunction, increased oxidative stress and inflammation, differentially expressed microRNAs, increased expression of crucial chromosome 21 genes, and DNA hyper-methylation and hyperactive homocysteine trans-sulfuration pathway, 

    8. Sociological and cultural aspects of Down syndrome 
    Variability in cognitive development and treatment approaches 
    Expression of gene-dosage in trisomy 21 and its repression by XIST-expression

Product details

  • No. of pages: 200
  • Language: English
  • Copyright: © Academic Press 2022
  • Published: August 1, 2022
  • Imprint: Academic Press
  • Paperback ISBN: 9780323904568

About the Author

Bani Ganguly

The author is a Geneticist by education and profession, and has accumulated over 36 years of experience in research and diagnosis. Her main areas of research revolved around Human Genetics, including in vitro testing of industrial chemicals, hazard assessment of accidental and environmental exposures, radiation bio-dosimetry, genetic counseling and diagnosis of heritable and acquired genetic diseases. Her involvement in the screening of chromosomal alterations in methyl isocyanate gas (MIC) exposed population of Bhopal, India shortly after the disaster and 30 years later has earned wide recognition through publications, awards and felicitations. She has established India’s first CAP accredited Genetic Diagnostic Laboratory to cater the service across India and neighboring countries. The diagnostic service also included testing of Inteferon-α and Dasatinib trials on CML patients. Her research work has been reflected through her publications in peer-reviewed journals. She has been an assessor for accreditation of medical laboratories for ISO 17025 and ISO 15189 standards. Her current interest is to produce an atlas of chromosome aberrations causing birth defects, pubertal delay and reproductive failure, and another one on chromosomal rearrangements in hematologic malignancies. She has been actively involved in teaching and training to pass on the knowledge acquired in the field of Genetics. She is a proud mother of two children (one is Robotics Scientist, California; other is Assistant Professor of Dentistry, India) and lives with her husband Prodosh in CBD Belapur, Navi Mumbai, India.

Affiliations and Expertise

MGM New Bombay Hospital, Vashi Sector 3, Navi Mumbai 400703, India (as Head of Genetics Department), and MGM Institute of Health Sciences, Navi Mumbai 410209, India (as Professor of Genetics Department).

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