Scribd Logo
Upload

Welcome to Scribd!

  • Cito Genetic A

    Uploaded by

    Georgiana Daniela Dragomir
    14 views14 pages
    This document summarizes key aspects of cytogenetics and chromosomal abnormalities. It discusses the cell cycle and meiosis. It compares spermatogenesis and oogenesis, noting their similarities like involving mitosis and meiosis, but also differences like fertility timeframes. Numerical and structural chromosomal abnormalities are outlined. Specific conditions like Down syndrome, Edwards syndrome, and Klinefelter syndrome are mentioned. Genomic imprinting and related disorders Prader-Willi and Angelman syndromes are also summarized.

    Original Description:

    citogenetica

    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 summarizes key aspects of cytogenetics and chromosomal abnormalities. It discusses the cell cycle and meiosis. It compares spermatogenesis and oogenesis, noting their similarities like involving mitosis and meiosis, but also differences like fertility timeframes. Numerical and structural chromosomal abnormalities are outlined. Specific conditions like Down syndrome, Edwards syndrome, and Klinefelter syndrome are mentioned. Genomic imprinting and related disorders Prader-Willi and Angelman syndromes are also summarized.

    Copyright:

    © All Rights Reserved
    Download as PPT, PDF, TXT or read online from Scribd
    Flag for inappropriate content
    Download as ppt, pdf, or txt
    14 views14 pages

    Cito Genetic A

    Uploaded by

    Georgiana Daniela Dragomir
    This document summarizes key aspects of cytogenetics and chromosomal abnormalities. It discusses the cell cycle and meiosis. It compares spermatogenesis and oogenesis, noting their similarities like involving mitosis and meiosis, but also differences like fertility timeframes. Numerical and structural chromosomal abnormalities are outlined. Specific conditions like Down syndrome, Edwards syndrome, and Klinefelter syndrome are mentioned. Genomic imprinting and related disorders Prader-Willi and Angelman syndromes are also summarized.

    Copyright:

    © All Rights Reserved
    Download as PPT, PDF, TXT or read online from Scribd
    Flag for inappropriate content
    Download as ppt, pdf, or txt
    of 14

    CITOGENETICA

    CICLUL CELULAR
    DIVIZIUNEA CELULARA

    Mitoza
    DIVIZIUNEA CELULARA

    Meioza
    Spermatogeneza
    Ovogeneza
    Comparatie intre spermatogeneza si ovogeneza
    Asemanari: Diferente:

    Spermatogeneza Ovogeneza

    - Implica milioane de - Procesul incepe in


    - Ambele procese incep celule zilnic dezvoltarea fetala
    cu mitoza
    - Procesul incepe la - Fertilitatea este
    - Ambele procese includ pubertate limitata in timp (pana
    meioza
    - Fertilitatea se extinde la menopauza)
    pe durata intregii vieti - In urma meiozei
    - In urma meiozei rezulta o singura
    rezulta 4 celule n celula n
    Aberatii cromozomale numerice

    Cromozomi intarziati
    Nondisjunctii
    Aberatii cromozomale structurale
    Reprezentare schematic a regiunii 15q11-q13. Se observ cele trei breakpointuri (BP1-BP3),
    principalele gene dintre BP1 i BP2, precum i genele din regiunea deletat, fiind specificate care
    dintre acestea sufer un proces de imprinting
    Imprinting genomic

    PW AS

    Schematic presentation of the different genetic defects found in Prader-Willi and


    Angelman syndromes. A) Normal imprinting of paternal (P) and maternal (M) regions of
    15q11-q13. In paternal chromosome 15 PWS genes are active (open square) and AS
    gene(s) inactive (solid circle), whereas in maternal chromosome 15 PWS genes are
    inactive (solid square) and AS gene(s) active (open circle). B) Genetic defects resulting
    in lack of expression of paternal genes in PWS. C) Genetics defects resulting in lack
    of expression of maternal gene(s) in AS. IC = imprinting centre, UPD = uniparental
    disomy, ID = imprinting defect, X = mutation or imprinting switch failure in IC.
    Trisomie 21 Sindrom Down

    Down translocat
    Alte maladii autozomale

    Trisomie 18 Edwards

    Cri-du-chat
    Maladii heterozomale

    Klinefelter's Syndrome

    Turner Syndrome

    You might also like