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Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). 48,XXYY syndrome results from the presence of an extra copy of both ...
This is an accepted version of this page This is the latest accepted revision, reviewed on 23 December 2024. DNA molecule containing genetic material of a cell This article is about the DNA molecule. For the genetic algorithm, see Chromosome (genetic algorithm). Chromosome (10 7 - 10 10 bp) DNA Gene (10 3 - 10 6 bp) Function A chromosome and its packaged long strand of DNA unraveled. The DNA's ...
The work took place in 1955, and was published in 1956. The karyotype of humans includes only 46 chromosomes. [77] [29] The other great apes have 48 chromosomes. Human chromosome 2 is now known to be a result of an end-to-end fusion of two ancestral ape chromosomes. [78] [79]
When an egg and sperm fuse at fertilization, the two sets of chromosomes come together to form a unique diploid individual with 46 chromosomes. [2] The sex chromosome in a human egg is always an X chromosome since a female only has X sex chromosomes. In sperm, about half the sperm have an X chromosome and half have a Y chromosome. [2]
46,XX/46,XY chimeric or mosaic is associated with a wide spectrum of different physical presentations, with cases ranging from having a completely normal male or female phenotype [7] [8] [9] to some cases having ovotesticular syndrome. Due to this variation, genetic testing is the only way to reliably make a diagnosis.
When a human germ cell undergoes meiosis, the diploid 46 chromosome complement is split in half to form haploid gametes. After fusion of a male and a female gamete (each containing 1 set of 23 chromosomes) during fertilization, the resulting zygote again has the full complement of 46 chromosomes: 2 sets of 23 chromosomes.
Though a 48-chromosome complement involving the autosomes would be unsurvivable, 49,XXXYY and other high-level sex chromosome aneuploidies, such as tetrasomy X, pentasomy X, XYYY syndrome, XYYYY syndrome, and XXXXY syndrome, are survivable with relatively mild phenotypes due to the paucity of genes vital to basic development on the sex chromosomes.
Full tetrasomy of an individual occurs due to non-disjunction when the cells are dividing (meiosis I or II) to form egg and sperm cells (gametogenesis).This can result in extra chromosomes in a sperm or egg cell.