Scribd Logo
Upload

Welcome to Scribd!

  • Karyotype Analysis: Chromosome Staining & Structure Chromosomal Abnormalities in Humans

    Uploaded by

    Aya
    19 views5 pages
    This document discusses karyotype analysis, including staining techniques used to visualize chromosomes and identify structures like the centromere and telomeres. It also summarizes common chromosomal abnormalities in humans such as aneuploidies involving extra or missing chromosomes that can cause conditions like Down syndrome, Turner syndrome, and Cri-du-chat syndrome. Translocations are also mentioned as another type of chromosomal abnormality.

    Original Description:

    Karyotype

    Original Title

    Karyotype

    Copyright

    © © All Rights Reserved

    Available Formats

    PPT, PDF, TXT or read online from Scribd

    Did you find this document useful?

    Is this content inappropriate?

    Report this Document
    This document discusses karyotype analysis, including staining techniques used to visualize chromosomes and identify structures like the centromere and telomeres. It also summarizes common chromosomal abnormalities in humans such as aneuploidies involving extra or missing chromosomes that can cause conditions like Down syndrome, Turner syndrome, and Cri-du-chat syndrome. Translocations are also mentioned as another type of chromosomal abnormality.

    Copyright:

    © All Rights Reserved
    Download as PPT, PDF, TXT or read online from Scribd
    Flag for inappropriate content
    19 views5 pages

    Karyotype Analysis: Chromosome Staining & Structure Chromosomal Abnormalities in Humans

    Uploaded by

    Aya
    This document discusses karyotype analysis, including staining techniques used to visualize chromosomes and identify structures like the centromere and telomeres. It also summarizes common chromosomal abnormalities in humans such as aneuploidies involving extra or missing chromosomes that can cause conditions like Down syndrome, Turner syndrome, and Cri-du-chat syndrome. Translocations are also mentioned as another type of chromosomal abnormality.

    Copyright:

    © All Rights Reserved
    Download as PPT, PDF, TXT or read online from Scribd
    Flag for inappropriate content
    of 5

    Karyotype Analysis

    A. Chromosome staining & structure


    B. Chromosomal abnormalities in humans
    A. Chromosome Staining &
    Structure
    Metaphase chromosome spread
    Staining techniques
    G-banding
    R-banding
    Q-banding
    A. Chromosome Staining &
    Structure
    Centromere Position
    Metacentric
    Submetacentric
    Acrocentric; P & q arms
    Telocentric
    Centromere & telomere structures
    B. Chromosomal Abnormalities
    Euploidy vs. aneuploidy
    Nondisjunction
    Monosomy
    Turner syndrome (45,XO)
    Cri-du-chat (deletion or partial monosomy); 46,-5p
    B. Chromosomal Abnormalities
    Trisomy
    Kleinfelter syndrome (47, XXY)
    Trisomy Down syndrome (47, +21)
    Patau syndrome (47, +13)
    Edwards syndrome (47, +18)
    Translocation
    Translocation (familial) Down syndrome
    (45, 14/21 D/G)

    You might also like