Large-scale chromosomal changes

50 important questions on Large-scale chromosomal changes

A chromosome having no centromere.

Acentric chromosome

In a reciprocal translocation, the passage of a translocated and a normal chromosome to each of the poles.

Adjacent-1-segregation

An allopolyploid; a polyploid formed from the union of two separate chromosome sets and their subsequent doubling.

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In a reciprocal translocation, the passage of both normal chromosomes to one pole and both translocated chromosomes to the other pole.

Alternate segregation

A genome having a chromosome number that differs from the normal chromosome number for the species by a small number of chromosomes.

Aneuploid

Polyploid formed from the doubling of a single genome.

Autopolyploid

A change in the chromosomal gene order that does not remove or duplicate any DNA. The two classes of balanced rearrangements are inversions and reciprocal translocations.

Balanced rearrangement

A chromosome with multiple inversions, used to retain favorable allele combinations in the uninverted homolog.

Balancer

Two homologous chromosomes paired at meiosis.

Bivalents

Any type of change in chromosome structure or number.

Chromosome mutation

The removal of a chromosomal segment from a chromosome set.

Deletion

The loop formed at meiosis by the pairing of a normal chromosome and a deletion-containing chromosome.

Deletion loop

The use of a set of known deletions to map new recessive mutations by pseudodominance.

Deletion mapping

In a dicentric chromosome, the segment between centromeres being drawn to opposite poles at nuclear division.

Dicentric bridge

An abnormal haploid carrying two copies of one chromosome.

Disomic

The process in organisms using a chromosomal sex-determination mechanism (such as XX versus XY) that allows standard structural genes on the sex chromosome to be expressed at the same levels in females and males, regardless of the number of sex chromosomes. In mammals, dosage compensation operates by maintaining only a single active X chromosome in each cell; in Drosophila, it operates by hyperactivating the male X chromosome.

Dosage compensation

An abnormal human phenotype, including mental retardation, due to a trisomy of chromosome 21; more common in babies born to older mothers.

Down syndrome

A small dividing mass of monoploid cells, produced from a cell destined to become a pollen cell by exposing it to cold.

Embryoid

A cell having any number of complete chromosome sets or an individual organism composed of such cells.

Euploid

The idea that a normal phenotype requires a 1:1 relative proportion of genes in the genome.

Gene balance

(1) Proportionality of the expression of some biological function to the number of copies of an allele present in the cell. (2) A change in phenotype caused by an abnormal number of wild-type alleles (observed in chromosomal mutations).

Gene-dosage effect

The total set of deleterious alleles in an individual genotype.

Genetic load

Partly homologous chromosomes, usually indicating some original ancestral homology.

Homeologous chromosomes

A duplication in which the extra copy is not adjacent to the normal one.

Insertional duplication

A deletion within a gene.

Intragenic deletion

A chromosomal mutation consisting of the removal of a chromosome segment, its rotation through 180°, and its reinsertion in the same location.

Inversion

A diploid with a normal and an inverted homolog.

Inversion heterozygote

A loop formed by meiotic pairing of homologs in an inversion heterozygote.

Inversion loop

An abnormal human male phenotype due to an extra X chromosome (XXY).

Klinefelter syndrome

A cell having only one chromosome set (usually as an aberration) or an organism composed of such cells.

Monoploid

A cell or individual organism that is basically diploid but has only one copy of one particular chromosome type and thus has chromosome number 2n + 1.

Monosomic

A deletion of several adjacent genes.

Multigenic deletion

Crossing over between short homologous units found at different chromosomal loci.

Non-allelic homologous recombination (NAHR)

The failure of homologs (at meiosis) or sister chromatids (at mitosis) to separate properly to opposite poles.

Nondisjunction

An individual organism with five sets of chromosomes.

Pentaploid

A giant chromosome in specific tissues of some insects, produced by an endomitotic process in which the multiple DNA sets remain bound in a haploid number of chromosomes.

Polytene chromosome

Variegation caused by the inactivation of a gene in some cells through its abnormal juxtaposition with heterochromatin.

Position effect variegation

The sudden appearance of a recessive phenotype in a pedigree, due to the deletion of a masking dominant gene.

Pseudodominance

The appearance of linkage of two genes on translocated chromosomes.

Pseudolinkage

The production of abnormal chromosomes by the breakage and incorrect rejoining of chromosomal segments; examples are inversions, deletions, and translocations.

Rearrangement

Presence of two or more large nontandem repeats.

Segmental duplication

The phenotype of an organism heterozygotic for certain types of chromosome aberration; expressed as a reduced number of viable gametes and hence reduced fertility

Semisterility; half-sterility

Adjacent identical chromosome segments.

Tandem duplication

The relocation of a chromosomal segment to a different position in the genome.

Translocation

Basically a diploid with an extra chromosome of one type, producing a chromosome number of the form 2n + 1.

Trisomic

Refers to the meiotic pairing arrangement of three homologs in a triploid or trisomic.

Trivalent

An abnormal human female phenotype produced by the presence of only one X chromosome (XO).

Turner syndrome

A rearrangement in which chromosomal material is gained or lost in one chromosome set

Unbalanced rearrangement

A single unpaired meiotic chromosome, as is often found in trisomics and triploids

Univalent

Can gene mutations be detected microsopically? And cromosome mutations?

No
Yes, many chromosome mutations can be detected by microscopy, by genetic or molecular analysis, or by a combination of all techniques.

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