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    Biochemistry of Down Syndrom

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    Josephine mbah
    This document is a seminar presentation on the biochemistry of Down syndrome. It discusses the history of Down syndrome, the mechanisms and types. It covers the signs and symptoms which include mental retardation, heart defects, and characteristic facial features. It also discusses the neurological, cardiac and hematological effects. The document outlines the diagnosis and advancement in prenatal testing. It concludes with recommendations for managing Down syndrome through a multidisciplinary approach.

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    Biochemistry of Down Syndrom

    Uploaded by

    Josephine mbah
    53 views3 pages
    This document is a seminar presentation on the biochemistry of Down syndrome. It discusses the history of Down syndrome, the mechanisms and types. It covers the signs and symptoms which include mental retardation, heart defects, and characteristic facial features. It also discusses the neurological, cardiac and hematological effects. The document outlines the diagnosis and advancement in prenatal testing. It concludes with recommendations for managing Down syndrome through a multidisciplinary approach.

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    BIOCHEMISTRY OF DOWN SYNDROM

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    This document is a seminar presentation on the biochemistry of Down syndrome. It discusses the history of Down syndrome, the mechanisms and types. It covers the signs and symptoms which include mental retardation, heart defects, and characteristic facial features. It also discusses the neurological, cardiac and hematological effects. The document outlines the diagnosis and advancement in prenatal testing. It concludes with recommendations for managing Down syndrome through a multidisciplinary approach.

    Copyright:

    © All Rights Reserved
    Download as DOCX, PDF, TXT or read online from Scribd
    Download as docx, pdf, or txt
    53 views3 pages

    Biochemistry of Down Syndrom

    Uploaded by

    Josephine mbah
    This document is a seminar presentation on the biochemistry of Down syndrome. It discusses the history of Down syndrome, the mechanisms and types. It covers the signs and symptoms which include mental retardation, heart defects, and characteristic facial features. It also discusses the neurological, cardiac and hematological effects. The document outlines the diagnosis and advancement in prenatal testing. It concludes with recommendations for managing Down syndrome through a multidisciplinary approach.

    Copyright:

    © All Rights Reserved
    Download as DOCX, PDF, TXT or read online from Scribd
    Download as docx, pdf, or txt
    of 3

    BIOCHEMISTRY OF DOWN SYNDROME

    A SEMINAR PRESENTED
    BY

    AKOBUNDU UGONAYA AUGUSTINA


    IMT/SLT/STH/H2020/8/027

    DEPARTMENT OF SCIENCE LABORATORY


    TECHNOLOGY
    SCHOOL OF TECHNOLOGY

    INSTITUTE OF MANAGEMENT AND


    TECHNOLOGY (IMT) ENUGU

    SUPERVISOR: MR. EZEUGWU, F.O

    JUNE, 2022
    TABLE OF CONTENT
    Title i
    Acknowledgement ii
    Table of contents iii
    Abstract v
    CHAPTER ONE
    Introduction 1
    Brief History of Down’s syndrome 3
    CHAPTER TWO
    Mechanisms of Down’s syndrome 5
    Types of Down’s syndrome 7
    Causes of Down’s syndrome 9
    Signs and Symptoms of Down’s syndrome 11
    CHAPTER THREE
    Effects of Down’s syndrome 18
    Neurological Effect 18
    Cardiac Effect 19
    Hematological Effect 20
    Diagnosis of Down’s syndrome 21
    Advancement in the Diagnosis 24
    Non-invasive Prenatal Diagnosis 25
    Management of Down’s syndrome 26
    CHAPTER FOUR
    Conclusion and Recommendations 29
    Conclusion 29
    Recommendations 29
    References 31
    ABSTRACT
    Down syndrome (DS) is a birth defect with huge medical and social costs, caused
    by trisomy of whole or part of chromosome 21. It is associated with mental
    retardation, congenital heart defects, gastrointestinal anomalies, weak
    neuromuscular tone, dysmorphic features of the head, neck and airways,
    audiovestibular and visual impairment, characteristic facial and physical features,
    hematopoietic disorders and a higher incidence of other medical disorders.
    Scientists have identified candidate genes that are involved in the formation of
    specific Down syndrome features. These advances in turn may help to develop
    targeted therapy for persons with trisomy 21. Screening for Down syndrome is an
    important part of routine prenatal care. Down syndrome can be identified during
    pregnancy by prenatal screening followed by diagnostic testing or after birth by
    direct observation and genetic testing. Since the introduction of screening,
    pregnancies with the diagnosis are often terminated. Since various clinical
    conditions are associated with Down syndrome, hence the management of these
    patients requires an organized multidisciplinary approach and continuous
    monitoring of these patients.

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