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47,XXY
Klinefelter syndrome (KS), also known as 47,XXY, is an aneuploid genetic condition where a male has an additional copy of the X chromosome. The primary features are infertility and small, poorly functioning testicles. Usually, symptoms are subtle and subjects do not realize they are affected. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor motor coordination, less body hair, breast growth, and less interest in sex. Often, these symptoms are noticed only at puberty. Intelligence is usually normal, but reading difficulties and problems with speech are more common. Klinefelter syndrome occurs randomly. The extra X chromosome comes from the father and mother nearly equally. An older mother may have a slightly increased risk of a child with KS. The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome yielding a total of 47 or more chromosomes rather than the usual 46. KS is diagnosed by the ...
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X Chromosome
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery. Discovery It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig. Henking was studying the testicles of ''Pyrrhocoris'' and noticed that one chromosome did not take part in meiosis. Chromosomes are so named because of their ability to take up staining (''chroma'' in Greek means ''color''). Although the X chromosome could be stained just as well as the others, Henking was unsure whether it was a different class of object and consequently named it ''X element'', which later be ...
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Karyotype
A karyotype is the general appearance of the complete set of metaphase chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. Karyotyping is the process by which a karyotype is discerned by determining the chromosome complement of an individual, including the number of chromosomes and any abnormalities. A karyogram or idiogram is a graphical depiction of a karyotype, wherein chromosomes are organized in pairs, ordered by size and position of centromere for chromosomes of the same size. Karyotyping generally combines light microscopy and photography, and results in a photomicrographic (or simply micrographic) karyogram. In contrast, a schematic karyogram is a designed graphic representation of a karyotype. In schematic karyograms, just one of the sister chromatids of each chromosome is generally shown for brevity, and in reality they are generally so close together that they look as one on photomicrographs as well ...
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Aneuploidy
Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46. It does not include a difference of one or more complete sets of chromosomes. A cell with any number of complete chromosome sets is called a ''euploid'' cell. An extra or missing chromosome is a common cause of some genetic disorders. Some cancer cells also have abnormal numbers of chromosomes. About 68% of human solid tumors are aneuploid. Aneuploidy originates during cell division when the chromosomes do not separate properly between the two cells (nondisjunction). Most cases of aneuploidy in the autosomes result in miscarriage, and the most common extra autosomal chromosomes among live births are 21, 18 and 13. Chromosome abnormalities are detected in 1 of 160 live human births. Autosomal aneuploidy is more dangerous than sex chromosome aneuploidy, as autosomal aneuploidy is almost always lethal to embryos that cease develo ...
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Counseling
Counseling is the professional guidance of the individual by utilizing psychological methods especially in collecting case history data, using various techniques of the personal interview, and testing interests and aptitudes. This is a list of counseling topics. Therapeutic modalities * Academic advising * Art therapy/dance therapy/drama therapy/music therapy * Brief psychotherapy * Career counseling * Christian counseling * Co-counseling * Connectionism * Consultant (medicine) * Counseling psychology * Couples therapy * Credit counseling * Crisis hotline * Disciplinary counseling * Ecological counseling * Emotionally focused therapy * Existential counseling * Exit counseling * Family therapy * Genetic counseling * Grief counseling * Intervention (counseling), Intervention * Licensed professional counselor * Mental health care navigator * Mental health counselor * Narrative therapy * Navy counselor * Nouthetic counseling * Online counseling * Pastoral counseling * Person-center ...
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Assisted Reproductive Technology
Assisted reproductive technology (ART) includes medical procedures used primarily to address infertility. This subject involves procedures such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), cryopreservation of gametes or embryos, and/or the use of fertility medication. When used to address infertility, ART may also be referred to as fertility treatment. ART mainly belongs to the field of reproductive endocrinology and infertility. Some forms of ART may be used with regard to fertile couples for genetic purpose (see preimplantation genetic diagnosis). ART may also be used in surrogacy arrangements, although not all surrogacy arrangements involve ART. The existence of sterility will not always require ART to be the first option to consider, as there are occasions when its cause is a mild disorder that can be solved with more conventional treatments or with behaviors based on promoting health and reproductive habits. Procedures General With ART, the pr ...
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Testosterone Replacement
Androgen replacement therapy (ART), often referred to as testosterone replacement therapy (TRT) or hormone replacement therapy (HRT), is a form of hormone therapy in which androgens, often testosterone, are supplemented or replaced exogenously. ART is often prescribed to counter the effects of male hypogonadism. It typically involves the administration of testosterone through injections, skin creams, patches, gels, pills, or subcutaneous pellets. ART is also prescribed to lessen the effects or delay the onset of normal male aging. However, this is controversial and is the subject of ongoing clinical trials. As men enter middle age they may notice changes caused by a relative decline in testosterone: fewer erections, fatigue, thinning skin, declining muscle mass and strength, and/or more body fat. Dissatisfaction with these changes causes some middle age men to seek ART. Androgen deficiencies in women have also, as of 2001, been recognized as a medical disorder that can be treat ...
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Counselling
Counseling is the professional guidance of the individual by utilizing psychological methods especially in collecting case history data, using various techniques of the personal interview, and testing interests and aptitudes. This is a list of counseling topics. Therapeutic modalities * Academic advising * Art therapy/dance therapy/ drama therapy/music therapy * Brief psychotherapy * Career counseling * Christian counseling * Co-counseling * Connectionism * Consultant (medicine) * Counseling psychology * Couples therapy * Credit counseling * Crisis hotline * Disciplinary counseling * Ecological counseling * Emotionally focused therapy * Existential counseling * Exit counseling * Family therapy * Genetic counseling * Grief counseling * Intervention * Licensed professional counselor * Mental health care navigator * Mental health counselor * Narrative therapy * Navy counselor * Nouthetic counseling * Online counseling * Pastoral counseling * Person-centered therapy * Postvent ...
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Genetic Test
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breeding, or ...
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Chromosome
A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are the histones. These proteins, aided by chaperone proteins, bind to and condense the DNA molecule to maintain its integrity. These chromosomes display a complex three-dimensional structure, which plays a significant role in transcriptional regulation. Chromosomes are normally visible under a light microscope only during the metaphase of cell division (where all chromosomes are aligned in the center of the cell in their condensed form). Before this happens, each chromosome is duplicated ( S phase), and both copies are joined by a centromere, resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. The joined copies are now called si ...
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Y Chromosome
The Y chromosome is one of two sex chromosomes (allosomes) in therian mammals, including humans, and many other animals. The other is the X chromosome. Y is normally the sex-determining chromosome in many species, since it is the presence or absence of Y that determines the male or female sex of offspring produced in sexual reproduction. In mammals, the Y chromosome contains the gene SRY, which triggers male development. The DNA in the human Y chromosome is composed of about 59 million base pairs, making it similar in size to chromosome 19. The Y chromosome is passed only from father to son. With a 30% difference between humans and chimpanzees, the Y chromosome is one of the fastest-evolving parts of the human genome. The human Y chromosome carries an estimated 100–200 genes, with between 45 and 73 of these being protein-coding. All single-copy Y-linked genes are hemizygous (present on only one chromosome) except in cases of aneuploidy such as XYY syndrome or XXYY syndrome. ...
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Dyslexia
Dyslexia, also known until the 1960s as word blindness, is a disorder characterized by reading below the expected level for one's age. Different people are affected to different degrees. Problems may include difficulties in spelling words, reading quickly, writing words, "sounding out" words in the head, pronouncing words when reading aloud and understanding what one reads. Often these difficulties are first noticed at school. The difficulties are involuntary, and people with this disorder have a normal desire to learn. People with dyslexia have higher rates of attention deficit hyperactivity disorder (ADHD), developmental language disorders, and difficulties with numbers. Dyslexia is believed to be caused by the interaction of genetic and environmental factors. Some cases run in families. Dyslexia that develops due to a traumatic brain injury, stroke, or dementia is sometimes called "acquired dyslexia" or alexia. The underlying mechanisms of dyslexia result from differ ...
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Puberty
Puberty is the process of physical changes through which a child's body matures into an adult body capable of sexual reproduction. It is initiated by hormonal signals from the brain to the gonads: the ovaries in a girl, the testes in a boy. In response to the signals, the gonads produce hormones that stimulate libido and the growth, function, and transformation of the brain, bones, muscle, blood, skin, hair, breasts, and sex organs. Physical growth—height and weight—accelerates in the first half of puberty and is completed when an adult body has been developed. Before puberty, the external sex organs, known as primary sexual characteristics, are sex characteristics that distinguish boys and girls. Puberty leads to sexual dimorphism through the development of the secondary sex characteristics, which further distinguish the sexes. On average, girls begin puberty at ages 10–11 and complete puberty at ages 15–17; boys generally begin puberty at ages 11–12 and complete ...
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