cytogenetic nomenclature


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The advantage of a standardized nomenclature is apparent in any discipline A standardized method for designating carbon molecules in steroid chemistry 

PDF Cytogenetics Lecture 1

– Cytogenetic abnormalities and nomenclature – Genetic basis of cancer Standard Nomenclature for Karyotype Designation General designation includes 

  • What is fish nomenclature in cytogenetics?

    Fluorescence in situ. hybridization (FISH) Use of fluorescent probes for the identification of known chromosome or genetic aberrations in the metaphases or interphase nuclei.

  • What is chromosome nomenclature?

    A normal male is designated as“46,XY” and a normal female as “46,XX”.
    An extra or a missing chromosome is designated with a “+” or “−” sign, respectively, before the number of chromosome.
    Thus, a male with trisomy (extra chromosome) for chromosome 21 is 47,XY,+21, and a female with a monosomy for 22 is 45,XX,-22.

  • The number 46 indicates that there were 46 chromosomes present, and the XX indicates there were two X chromosomes so the person is female.
    If the individual was a boy, it would say 46, XY.
    If your child has been diagnosed with Down syndrome, the karyotype image would have an extra copy of chromosome 21 as seen below.

  • What is the cytogenetic nomenclature of a karyotype?

    In the karyotype description, the first item to be recorded is the total number of chromosomes, followed by a comma (,).
    The sex chromosome constitution is given next.
    Thus, a normal female karyotype is written as 46,XX, and the normal male karyotype as 46,XY.

  • The International System for Human Cytogenomic Nomenclature (ISCN) is the central reference for the description of karyotyping, FISH, and microarray results, and provides rules for describing cytogenetic and molecular cytogenetic findings in laboratory reports.
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