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Encyclopedia > 46,XX
Karyogram of human female

A karyotype is the complete set of all chromosomes of a cell of any living organism. The chromosomes are arranged and displayed (often on a photo) in a standard format: in pairs, ordered by size. Karyotypes are examined in searches for chromosomal aberrations, and may be used to determine other macroscopically visible aspects of an individual's genotype, such as sex (XX vs. XY pair). The study of karyotypes is known as karyology.

Normal human karyotypes are denoted 46,XX (for most women) and 46,XY (for most men). However, some individuals have other karyotypes with added or missing sex chromosomes, including 47,XYY, 47,XXY, 47,XXX and 45,X. The other possibility, 45,Y, does not occur, as an embryo with only a Y chromosome is incapable of survival.

Classic karyotype

In the "classic" (depicted) karyotype, a dye, often Giemsa, is used to make bands on the chromosomes visible. This is also referred to as G-banding. Each chromosome has a characteristic banding patern which helps to identify them (notice that the two chromosomes of one pair have the same banding pattern).

Spectral karyotype (SKY technique)

Spectral Karyotype

In this newer technique, several different probes specific of one chromosome pair, carrying different amounts of a set of fluorescent dyes, are hybridized to the chromosomes in a technique known as fluorescent in situ hybridization (FISH). This gives each chromosome pair unique spectral characteristics due to the relative amount of each of the fluorochromes. Chromosomes can be automatically identified in fluorescence microscopy through an interferometer and a computer analysis (spectral imaging)

See also

  Results from FactBites:
Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome -- Kusz et al. 36 (6): 452 ... (2918 words)
46,XX maleness is a rare abnormality of sex determination with an incidence of 1 in 20 000.
STS sequences in two 46,XX males with hypospadias and three 46,XX true hermaphrodites are presented in table 2.
The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability.
XX Male (1356 words)
We describe here a case of 46,XX infertile azoospermic male with normal male phenotypes showing the absence of SRY region on Fluorescent In Situ Hybridization (FISH) analysis.
It is possible that in the present case XX male (SRY negative) may have a recessive mutation in the Z locus, so that it cannot switch off the male determining genes [11] and therefore the present case has normal male phenotypes and testicular development.
The role of the sex-determining region Y gene in the etiology of 46,XX maleness.
  More results at FactBites »



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