Cytogenetic nomenclature
The advantage of a standardized nomenclature is apparent in any discipline A standardized method for designating carbon molecules in steroid chemistry |
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– Cytogenetic abnormalities and nomenclature – Genetic basis of cancer Standard Nomenclature for Karyotype Designation General designation includes |
Fluorescence in situ. hybridization (FISH) Use of fluorescent probes for the identification of known chromosome or genetic aberrations in the metaphases or interphase nuclei.
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.
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.
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Cytogenetic nomenclature - ScienceDirectcom
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Nomenclature International System for human Cytogenetic Nomenclature (ISCN) 2009 In designating a particular band, ⇒chromosome number ⇒Arm symbol |
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[PDF] Cytogenetics: Nomenclature and Disease - cibmtr
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Cytogenetic nomenclature - ScienceDirectcom
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[PDF] Cytogenetics, chromosomal genetics
Nomenclature International System for human Cytogenetic Nomenclature (ISCN) 2009 In designating a particular band, ⇒chromosome number ⇒Arm symbol |
Describing Sequencing Results of Structural Chromosome
Apr 17, 2014 · Chromosome Rearrangements with a Suggested Next Generation Cytogenetic Nomenclature Zehra Ordulu,1,6 Kristen E Wong,1 Benjamin |
Human Chromosome Nomenclature
document currently in use is An International System for Human Cytogenetic Nomenclature (1995), abbreviated as ISCN 1995 as agreed upon by the conferees |