Sex chromosomal abnormalities

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.

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Sex chromosomal anomalies: Prospective studies in children

Human Chromosomal Abnormalities: Sex Chromosome Abnormalities

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. In addition, some males are born 46XX due to the translocation of a tiny section of the sex determining region of the Y chromosome. Similarly some females are also born 46XY due to mutations in the Y chromosome. Clearly, there are not only females who are XX and males who are XY, but rather, there is a range of chromosome complements, hormone balances, and phenotypic variations that determine sex.
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Chromosome Abnormalities Fact Sheet

Cytogenetic evaluation is an important step in the diagnosis of infertile or sterile animals. Moreover, the analysis of sex chromosomes is crucial for a proper classification of disorders of sex development DSD. For many years, chromosome studies mainly addressed the livestock species, while recently, increasing interest in such analysis in companion animals is observed.
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Several lines of inquiry suggest that it would be advantageous for individuals with SCA to be detected early in life, leading to prevention or treatment of accompanying conditions. There is limited information about pre- and perinatal status that distinguishes SCA embryogenesis from normal fetal development. Groups of SCAs were compared with DS and then matched with non-SCA controls to assess differences between these groups in prenatal markers and birth outcomes. We screened individuals examined prenatally.
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