Technology
The treatment of chromosomes to reveal characteristic patterns of horizontal bands. The banding patterns lend each chromosome a distinctive appearance so the 22 pairs of human non-sex chromosomes and the X and Y chromosomes can be identified and distinguished without ambiguity. Banding also permits the recognition of chromosome deletions (lost segments), chromosome duplications (surplus segments) and other types of structural rearrangements of chromosomes.
Diagnostic Methods
Glossary Term
The X or Y chromosome in human beings that determines the sex of an individual. Females have two X chromosomes in diploid cells; males have an X and a Y chromosome. The sex chromosomes comprise the 23rd chromosome pair in a human karyotype.
Pcr Terms
Glossary Term
A structure found in cells that is comprised of a strand of linearized double-stranded DNA plus proteins that package the DNA in a condensed coil form and regulate chromosomal function.
Pcr Terms
Technology
A physical mapping approach that uses fluorescent tags to detect hybridization of probes within metaphase chromosomes or less condensed somatic interphase chromatin. This technique can be used for identification of chromosomal abnormalities and for gene mapping.
Diagnostic Methods
Technology
Use of Giemsa stain to produce a characteristic staining pattern on chromosomes
Diagnostic Methods
Technology
The process of measuring the extent of crossovers between chromosomes as a gauge of the distance between genes.
Diagnostic Methods
Technology
Use of a DNA or RNA probe to detect the presence of complementary sequences in chromosomes, cells, or tissues.
Diagnostic Methods
Technology
The preparation, analysis, and interpretation of a karyotype, the representation of the chromosome set of a cell.
Diagnostic Methods
Technology
Studies of chromosome biology and behavior at the molecular level.
Diagnostic Methods
Technology
A novel karyotyping procedure which is based on the simultaneous hybridization of 24 chromosome-specific painting probes labeled with different fluorochromes or fluorochrome combinations. The measurement of defined emission spectra by means of interferometer-based spectral imaging allows for the definitive discernment of all human chromosomes in different colors. (from Schrock et al., Hum Genet 1997:101:255-62)
Diagnostic Methods
Glossary Term
Mutually exclusive alternative forms of the same gene occupying the same locus on homologous chromosomes, differing in nucleotide sequence and governing the same biochemical and developmental process.
Pcr Terms
Glossary Term
A chromosome not involved in sex determination. The diploid human genome consists of a total of 46 chromosomes which includes 22 pairs of autosomes.
Pcr Terms