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    Human Karyotyping: Sarwat Maroof

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    Zeeshan Yousuf
    Human karyotyping involves visualizing and analyzing a person's chromosomes to detect any abnormalities in number or structure. It can identify conditions like Down syndrome, Turner syndrome, and Klinefelter syndrome. The process involves growing cells from a tissue sample, treating them to separate chromosomes, staining them, and arranging them into a karyotype to identify number, size, and banding pattern. Abnormal karyotypes may reveal extra or missing chromosomes that can cause developmental delays or medical issues. Karyotyping is a valuable diagnostic tool for prenatal testing and evaluating developmental disorders, infertility, and blood cancers.

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    Human Karyotyping: Sarwat Maroof

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    Zeeshan Yousuf
    61 views49 pages
    Human karyotyping involves visualizing and analyzing a person's chromosomes to detect any abnormalities in number or structure. It can identify conditions like Down syndrome, Turner syndrome, and Klinefelter syndrome. The process involves growing cells from a tissue sample, treating them to separate chromosomes, staining them, and arranging them into a karyotype to identify number, size, and banding pattern. Abnormal karyotypes may reveal extra or missing chromosomes that can cause developmental delays or medical issues. Karyotyping is a valuable diagnostic tool for prenatal testing and evaluating developmental disorders, infertility, and blood cancers.

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    Human karyotyping involves visualizing and analyzing a person's chromosomes to detect any abnormalities in number or structure. It can identify conditions like Down syndrome, Turner syndrome, and Klinefelter syndrome. The process involves growing cells from a tissue sample, treating them to separate chromosomes, staining them, and arranging them into a karyotype to identify number, size, and banding pattern. Abnormal karyotypes may reveal extra or missing chromosomes that can cause developmental delays or medical issues. Karyotyping is a valuable diagnostic tool for prenatal testing and evaluating developmental disorders, infertility, and blood cancers.

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PPT, PDF, TXT or read online from Scribd
    Download as ppt, pdf, or txt
    61 views49 pages

    Human Karyotyping: Sarwat Maroof

    Uploaded by

    Zeeshan Yousuf
    Human karyotyping involves visualizing and analyzing a person's chromosomes to detect any abnormalities in number or structure. It can identify conditions like Down syndrome, Turner syndrome, and Klinefelter syndrome. The process involves growing cells from a tissue sample, treating them to separate chromosomes, staining them, and arranging them into a karyotype to identify number, size, and banding pattern. Abnormal karyotypes may reveal extra or missing chromosomes that can cause developmental delays or medical issues. Karyotyping is a valuable diagnostic tool for prenatal testing and evaluating developmental disorders, infertility, and blood cancers.

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    of 49

    HUMAN KARYOTYPING

    Sarwat Maroof
    Senior. Technologist Cytogenetics section Histopathology

    AGA KHAN UNIVERSITY HOSPITAL

    What is cytogenetics?
    The study of chromosomes and the related

    disease states caused by abnormal chromosome number and/or structure.


    Macro-visualization of the DNA in

    terms of chromosomes

    MAIN PURPOSE
    Is the visualization of changes, which

    affect the normal structure and number of chromosomes of an individual. Visualization of evolution

    Setting the number of chromosomes

    1891 - 1956 (between 44 & 48) 1956 set as 2n = 46 (Tjio & Levan).

    How is the sex of the offspring determined?


    In mammals, determined by chromosome

    composition Humans: 46 chromosomes total 23 chromosome pairs, 22 pairs are autosomes 1 pair of sex chromosomes Y chromosome carries genes for male development XX = female XY = male

    KARYOTYPING
    Karyotyping is the arrangement of chromosomes

    according to their size.


    Banding pattern Centomeric position

    Why do we do karyotyping? Post-natal Samples


    Pre-natal Samples
    Amniotic Fluid Product of Conception

    Pre-natal Diagnosis
    Autosomal Anomalies Trisomy 13 Trisomy 18 Trisomy 21

    Blood Bone Marrow Post-natal Diagnosis Autosomal Anomalies Trisomy 13 Trisomy 18 Trisomy 21 Turners syndrome Klinefelters syndrome Trisomy X Double Y syndrome Proliferated Syndrome

    CHROMOSOME STRUCTURE

    Human Karyotype

    46,XY

    ...and centromere position.

    HOW TO GET CHROMOSOMES


    A variety of tissue types can be used to obtain chromosome preparations. Blood Bone marrow Amniotic fluid Product of conception.

    Human Karyotype Procedure: blood sample centrifugation isolation of lymphocytes (phytohemaglutinin) incubation in 0.075M KCl (Hypotonic bath) 2 fixation (methanol/ethanol:acetic acid; 3:1) drop on frozen slide from 15 - 25 cm. Stain (Giemsa 4%) visualization of well spread samples. Photo karyotyping.

    Banding

    G: G banding pattern. Staining with Giemsa. Q: G banding pattern. staining with quinacrin orange. R: Reverse G banding pattern. Staining with Giemsa). C: Centromere and telomere banding pattern (constitutive heterochromatin). Staining with Giemsa )

    Smear

    Human Karyotype

    46,XY

    Chromosomes can be identified by their size and banding pattern...

    Karyotype

    What can we learn from a karyotype? Sex of individual Chromosome number Euploid = 46 chromosomes Aneuploid = extra or missing chromosome(s) Trisomy: three homologous chromosomes Monosomy: one chromosome Polyploid = extra chromosome sets Large changes in chromosome structure Sex determination

    Chromosome Abnormalities SEX CHROMOSOMAL DISORDER


    Turners Syndrome (XO) Klinefelters Syndrome XYY Syndrome XXX Syndrome

    AUTOSOMAL DISORDER

    Downs Syndrome (3 of type 21) Edwards Syndrome (3 of type 18) Pataus Syndrome (3 of type 13) Translocations: Chronic myelogenous leukemia (type 9 and type 22)

    Changes
    Structural
    translocations inversions insertions

    Numerical euploidy aneuploidy

    ALL autosomal monosomics die, BUT XO individuals survive and are relatively normal!!! There is something different about the autosomes and sex chromosomes.

    XXX Females are normal

    XXXX and XXXXX females also exist

    Another difference between sex chromosomes and autosomes. Autosomal trisomies die, but XXY, XYY, XXX, XXXX and XXXXX survive.

    Abnormalities
    15% of pregnancies end up in spontaneous abortions. 50% are chromosomal abnormalities. 25% are aneuploidies

    Nomenclature
    For a normal human being: 46, XY/46, XX For an abnormal number: 47, XX +21.(Downs

    Syndrome)

    Downs Syndrome
    Studied in the 1860s - Landon Down.
    Frequency: 1/800 - 1/700 In every cell: 95%

    Mosaics: 2%
    Robertsonian translocation: 3% Cause: Trisomy of chromosome 21

    (47, XY +21/47, XX +21) (Lejeun -1959)

    Symptoms

    Trisomy 21; Down Syndrome

    Can survive to age 50 Mental retardation

    Patau Syndrome
    Trisomy of the 13
    47, XY +13/47, XY+13 Frequency = 1/12000 Life term = up to 4 years (10%)

    Symptoms
    Forebrain folds. cleft lip proximal heel low set ears

    Trisomy 13; Patau Syndrome

    Most fetuses spontaneously abort

    Edwards Syndrome
    Trisomy of the 18 47, XY +18/47, XX +18 Frequency = 1/7000 - 1/3500 80% straight trisomy 10% mosaics Life term = up to one year (10%)

    Symptoms

    Presents most of the Patau syndrome


    symptoms, but in a less

    severe manner.

    Overlapping fingers

    Trisomy 18; Edwards Syndrome

    Human Aneuploidy in Sex Chromosomes

    Turner Syndrome

    Frequency = 1/2000 45, X apparently independent of the mother's age. It seems to be the fathers chromosome that is missing.

    Symptoms

    Turner syndrome, XO
    Female Short, wide-chested Underdeveloped breasts Rudimentary ovaries Sterile Normal intelligence

    Klinefelter Syndrome

    Frequency = 1/500 47, XXY (47, XYY tall & violent) Symptoms: small testis gynecomastia (male breast) mild mental retardation psychotic tendency

    Klinefelter syndrome, XXY


    Male Phenotype of syndrome not apparent until puberty Breast development Low fertility Subnormal intelligence

    Modified Klinefelter
    49, XXXXY: very retarded, skeletal anomalies, hypogenitalism, strabismus, wide eye set. 48, XXYY: violent behavior, taller than normal men. Others: XXXYY, XYYY, XYYYY. 47, XXX: normal women, but sometimes with abnormal sex development.

    Modified Klinefelter
    49, XXXXY: very retarded, skeletal anomalies, hypogenitalism, strabismus, wide eye set. 48, XXYY: violent behavior, taller than normal men. Others: XXXYY, XYYY, XYYYY. 47, XXX: normal women, but sometimes with abnormal sex development.

    XYY Individuals
    ~5% criminals with violent and antisocial behavior are XYY, but only 0.1% of males in population XYY

    XYY Syndrome

    THANX

    THE END

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