46 Suzuki, Mystie A.

Histology and Cytogenetics 16 February 2017

2D-MT

Cytogenetics Basic Nomenclature

Symbols and Abbreviations
, Separates chromosome modal number, sex chromosomes, and chromosome abnormalities
Loss of a chromosome
( ) Surround structurally altered chromosomes and breakpoints
+ Gain of a chromosome
; Separates rearranged chromosomes and breakpoints involving more than one chromosome
/ Separates cell lines or clones
// Separates recipient and donor cell lines in bone marrow transplants
del Deletion
der Derivative chromosome (used when only one chromosome from a translocation is present, or when
one chromosome has two or more structural abnormalities)
dic Dicentric chromosome
dn Chromosomal abnormality not inherited from parents (de novo)
dup Duplication of a portion of a chromosome
fra Fragile site (usually used with Fragile-X syndrome)
h Heterochromatic region of chromosome
i Isochromosome (both arms of the chromosome are the same)
ins Insertion of a portion of a chromosome
inv Inversion
.ish Precedes karyotype results from fluorescence in situ hybridization (FISH) analysis
mar Marker chromosome (unidentifiable piece of chromosome)
mat Maternally derived chromosome rearrangement
p Short arm of a chromosome
pat Paternally derived chromosome rearrangement
psu dic Only one centromere is active (pseudo dicentric)
q Long arm of a chromosome
r Ring chromosome
t Translocation
ter Terminal end of arm (i.e., 2qterend of the long arm of chromosome 2)
tri Trisomy
trp Triplication of a portion of a chromosome

General Guidelines
Modal number, sex chrom, abn abbrev (first chrom; second chrom) (arm band number; arm band
number)
Example:
46,XX,t(1;2)(p32;q22)
46 chromosomes, female (XX sex chromosomes), with a balanced translocation between chromosomes
1 and 2 with breakpoints in the short arm of chromosome 1 at band 1p32 and the long arm of
chromosome 2 at band 2q22.

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46 Suzuki, Mystie A. Histology and Cytogenetics 16 February 2017
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Definitions
Modal number: total count of number of chromosomes in each cell of a given cell line
Sex chromosomes: complement of X and Y chromosomes
Band number: numerical description of the location on a chromosome arm, in order from the
centromere out to the end of the chromosome. These numbers are a standard determined by the
International System for human Cytogenetic Nomenclature (ISCN), revised in 2013.

Define the Terms:

1. Gene - is the basic physical and functional unit of heredity. Genes, which are made up of DNA, act
as instructions to make molecules called proteins.
2. Genome - is an organisms complete set of DNA, including all of its genes. Each genome contains
all of the information needed to build and maintain that organism.
3. Gene pool - s a collection of all the genes in a population. This can be any population - frogs in a
pond, trees in a forest, or people in a town.
4. allele - is an alternative form of a gene (one member of a pair) that is located at a specific position
on a specific chromosome.
5. recessive allele - for it to produce a recessive phenotype, the individual must have two copies, one
from each parent. An individual with one dominant and one recessive allele for a gene will have the
dominant phenotype. They are generally considered carriers of the recessive allele: the recessive
allele is there, but the recessive phenotype is not.
6. dominant allele - produces a dominant phenotype in individuals who have one copy of the allele,
which can come from just one parent.
7. genotype - is your complete heritable genetic identity; it is your unique genome that would be
revealed by personal genome sequencing. However, the word genotype can also refer just to a
particular gene or set of genes carried by an individual .
8. phenotype - is a description of your actual physical characteristics. This includes straightforward
visible characteristics like your height and eye color, but also your overall health, your disease
history, and even your behavior and general disposition.
9. locus - the position in a chromosome of a particular gene or allele
10. Homologous XX - a chromosome with the same gene sequence as another
11. Sex Chromosomes - are particular chromosomes that are involved in determining the sex of an
organism. In the cells of humans and many other organisms the sex chromosomes consist of a pair
of chromosomes called the X and Y chromosomes.
12. Autosome - Any chromosome not considered as a sex chromosome, or is not involved in sex
determination. It occurs in pairs in somatic cells and singly in sex cells (gametes).
13. Homozygous - refers to having identical alleles for a single trait.
14. Heterozygous - refers to having two different alleles for a specific gene.
15. Carrier - is a person who has a change in one copy of a gene. The carrier does not have the genetic
disease related to the abnormal gene. A carrier can pass this abnormal gene to a child.
16. Codomination - A form of dominance in which the alleles of a gene pair in a heterozygote are
fully expressed thereby resulting in offspring with a phenotype that is neither dominant nor
recessive.

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17. incomplete dominance - A form of dominance occurring in heterozygotes in which the dominant
allele is only partially expressed, and usually resulting in an offspring with an intermediate
phenotype.
18. pleiotropy - the phenomenon in which a single gene contributes to multiple phenotypic traits.
19. polygenic heritance - Traits that are controlled by multiple genes
20. Telomere - are an essential part of human cells that affect how our cells age. Telomeres are the
caps at the end of each strand of DNA that protect our chromosomes, like the plastic tips at the end
of shoelaces.

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"What is genotype? What is phenotype?" PgEd. N.p., n.d. Web. 15 Feb. 2017.

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