Sex chromosome aberrations

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If your institution subscribes to this resource, and you don't have a MyAccess Profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus. In autosomal dominant inheritance, it is assumed that a mutation has occurred in 1 gene of an allelic pair and that the presence of this new gene produces enough of the changed protein to give a different phenotypic effect. Environment must also be considered because the effect may vary under different environmental conditions.

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Humans are born with 46 chromosomes in 23 pairs. Most women are 46XX and most men are 46XY. Research suggests, however, that in a few births per thousand some individuals will be born with a single sex chromosome 45X or 45Y sex monosomies and some with three or more sex chromosomes 47XXX, 47XYY or 47XXY, etc.

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Chromosome abnormalities can be numerical or structural. A numerical abnormality mean an individual is either missing one of the chromosomes from a pair or has more than two chromosomes instead of a pair. A structural abnormality means the chromosome's structure has been altered in one of several ways. Chromosomes are the structures that hold genes.

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Sex Chromosome Abnormalities. The majority of known types of chromosomal abnormalities involve sex chromosomes. In frequency of occurrence, they are only slightly less common than autosomal abnormalities.

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Sex chromosome abnormalities are the most common chromosomal abnormalities in humans [ 1 ]. Sex chromosome aneuploidies can influence neurodevelopment and often result in more difficulties in inhibition, mental flexibility, sustained attention, working memory, verbal skills and executive function impairment [ 2 ], while some of these symptoms partly overlap with psychosis. Studies have demonstrated that genes in the sex chromosome may influence psychiatric disease by altering the basic differentiation process of the neurons [ 3 ], encoding proteins [ 4 ], synaptic transmission [ 5 ] and so on.

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Human Chromosomes pp Cite as. The sex chromosomes show a much wider range of viable aneuploidy than do the autosomes, presumably for the following reasons. On the one hand, the Y chromosome seems to contain very few genes apart from those determining the male sex; on the other, all but one X chromosome in a cell are inactivated, forming X chromatin bodies in the interphase.

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The X and Y chromosomes are the two sex chromosomes in humans. Females have two X chromosomes, whereas males have one X and one Y chromosome. It is believed that the X was named by earlier researchers as unknown and the Y was named alphabetically after X.

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Sex chromosome abnormalities may be caused by full or partial deletions or duplications of sex chromosomes. Chromosomes are structures within cells that contain DNA and many genes. A gene is a segment of deoxyribonucleic acid DNA and contains the code for a specific protein that functions in one or more types of cells in the body see Genes and Chromosomes for a discussion about genetics. Genes contain instructions that determine how the body is supposed to function.

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