Klinefelter syndrome and other sex chromosomal aneuploidiessex
Overview of Sex Chromosome Abnormalities - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical Consumer Version.
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Gender and Genetics
The term Klinefelter syndrome KS describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17, to 1 per 50, male births.
Sex chromosome anomalies belong to a group of genetic conditions that are caused or affected by the loss, damage or addition of one or both sex.
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Excesses of sex chromosome abnormalities in patients with psychiatric diseases have recently been observed. It remains unclear whether sex chromosome abnormalities are related to sex differences in some psychiatric diseases. While studies showed evidence of susceptibility loci over many sex chromosomal regions related to various mental diseases, others demonstrated that the sex chromosome aneuploidies may be the key to exploring the pathogenesis of psychiatric disease. In this review, we will outline the current evidence on the interaction of sex chromosome abnormalities with schizophrenia, autism, ADHD and mood disorders. Sex chromosome abnormalities are the most common chromosomal abnormalities in humans [ 1 ].
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. Except for certain cells for example, sperm and egg cells or red blood cells , every human cell contains 23 pairs of chromosomes, for a total of 46 chromosomes. There are 22 pairs of chromosomes that are not sex chromosomes called nonsex chromosomes, numbered chromosomes, or autosomal chromosomes and one pair of sex chromosomes. The sex chromosomes determine whether a fetus becomes male or female.