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Jacob Syndrome
XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. There are usually few symptoms. These may include being taller than average, acne, and an increased risk of learning disabilities. The person is generally otherwise normal, including typical rates of fertility. The condition is generally not inherited from a person's parents but rather occurs as a result of a random event during sperm development. Diagnosis is by a chromosomal analysis, but most of those affected are not diagnosed within their lifetime. There are 47 chromosomes, instead of the usual 46, giving a 47,XYY karyotype. Treatment may include speech therapy or extra help with schoolwork, but outcomes are generally good. The condition occurs in about 1 in 1,000 male births. Many people with the condition are unaware that they have it. The condition was first described in 1961. Signs and symptoms Physical traits People with the 47,XYY karyotyp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Klinefelter Syndrome
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 t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fertility
Fertility is the capability to produce offspring through reproduction following the onset of sexual maturity. The fertility rate is the average number of children born by a female during her lifetime and is quantified demographically. Fertility is addressed when there is a difficulty or an inability to reproduce naturally, which is referred to as infertility. Infertility is widespread, with fertility specialists available all over the world to assist mothers and couples who experience difficulties having a baby. Human fertility depends on factors of nutrition, sexual behaviour, consanguinity, culture, instinct, endocrinology, timing, economics, personality, way of life, and emotions. Fertility differs from fecundity, which is defined as the ''potential'' for reproduction (influenced by gamete production, fertilization and carrying a pregnancy to term). Where a woman or the lack of fertility is infertility while a lack of fecundity would be called sterility. Demography I ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Short-stature Homeobox Gene
The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency). Pathology SHOX was first found during a search for the cause of short stature in women with Turner syndrome, where there is loss of genetic material from the X chromosome, typically by loss of one entire X chromosome. Since its discovery, the gene has been found to play a role in idiopathic short stature, Léri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. Gene dosage effects of extra copies of SHOX may be a cause of the increased stature seen in other sex chromosome aneuploidy conditions such as triple X, XYY, Klinefelter, XXYY and similar syndromes. Genetics and function SHOX is composed of 6 different exons and is located in the pseudoautosomal region 1 (PAR1) of the X chromosome (Xp22.33) and Y chromosome. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pseudoautosomal Region
The pseudoautosomal regions, PAR1, PAR2, are homologous sequences of nucleotides on the X and Y chromosomes. The pseudoautosomal regions get their name because any genes within them (so far at least 29 have been found for humans) are inherited just like any autosomal genes. PAR1 comprises 2.6 Mbp of the short-arm tips of both X and Y chromosomes in humans and great apes (X and Y are 155 Mbp and 59 Mbp in total). PAR2 is at the tips of the long arms, spanning 320 kbp. Location The locations of the PARs within GRCh38 are: The locations of the PARs within GRCh37 are: Inheritance and function Normal male mammals have two copies of these genes: one in the pseudoautosomal region of their Y chromosome, the other in the corresponding portion of their X chromosome. Normal females also possess two copies of pseudoautosomal genes, as each of their two X chromosomes contains a pseudoautosomal region. Crossing over between the X and Y chromosomes is normally restricted to the pseudoa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Annals Of Human Biology
''Annals of Human Biology'' is a bimonthly academic journal that publishes review articles on human population biology, nature, development and causes of human variation. It is published by Taylor & Francis on behalf of the Society for the Study of Human Biology, of which it is the official journal. Coverage Includes * Global health * Ageing * Epidemiology * Ecology * Environmental physiology * Human genetics * Auxology * Population biology Society ''Annals of Human Biology'' is the official journal of the Society for the Study of Human Biology Editors-in-Chief Noël Cameron, Olga Rickards, and Babette Zemel are the Editors-in-Chief An editor-in-chief (EIC), also known as lead editor or chief editor, is a publication's editorial leader who has final responsibility for its operations and policies. The highest-ranking editor of a publication may also be titled editor, managing ... of ''Annals of Human Biology''. Publication Format ''Annals of Human Biology'' publishes si ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Scotland
Scotland (, ) is a country that is part of the United Kingdom. Covering the northern third of the island of Great Britain, mainland Scotland has a border with England to the southeast and is otherwise surrounded by the Atlantic Ocean to the north and west, the North Sea to the northeast and east, and the Irish Sea to the south. It also contains more than 790 islands, principally in the archipelagos of the Hebrides and the Northern Isles. Most of the population, including the capital Edinburgh, is concentrated in the Central Belt—the plain between the Scottish Highlands and the Southern Uplands—in the Scottish Lowlands. Scotland is divided into 32 administrative subdivisions or local authorities, known as council areas. Glasgow City is the largest council area in terms of population, with Highland being the largest in terms of area. Limited self-governing power, covering matters such as education, social services and roads and transportation, is devolved from the Scott ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Edinburgh
Edinburgh ( ; gd, Dùn Èideann ) is the capital city of Scotland and one of its 32 Council areas of Scotland, council areas. Historically part of the county of Midlothian (interchangeably Edinburghshire before 1921), it is located in Lothian on the southern shore of the Firth of Forth. Edinburgh is Scotland's List of towns and cities in Scotland by population, second-most populous city, after Glasgow, and the List of cities in the United Kingdom, seventh-most populous city in the United Kingdom. Recognised as the capital of Scotland since at least the 15th century, Edinburgh is the seat of the Scottish Government, the Scottish Parliament and the Courts of Scotland, highest courts in Scotland. The city's Holyrood Palace, Palace of Holyroodhouse is the official residence of the Monarchy of the United Kingdom, British monarchy in Scotland. The city has long been a centre of education, particularly in the fields of medicine, Scots law, Scottish law, literature, philosophy, the sc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Denmark
) , song = ( en, "King Christian stood by the lofty mast") , song_type = National and royal anthem , image_map = EU-Denmark.svg , map_caption = , subdivision_type = Sovereign state , subdivision_name = Danish Realm, Kingdom of Denmark , established_title = History of Denmark#Middle ages, Consolidation , established_date = 8th century , established_title2 = Christianization , established_date2 = 965 , established_title3 = , established_date3 = 5 June 1849 , established_title4 = Faroese home rule , established_date4 = 24 March 1948 , established_title5 = European Economic Community, EEC 1973 enlargement of the European Communities, accession , established_date5 = 1 January 1973 , established_title6 = Greenlandic home rule , established_date6 = 1 May 1979 , official_languages = Danish language, Danish , languages_type = Regional languages , languages_sub = yes , languages = German language, GermanGerman is recognised as a protected minority language in t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Risskov
Risskov is the name of both a neighbourhood and a district in the city of Aarhus, Denmark. The district of Risskov is sometimes referred to as Vejlby-Risskov, as it is a merger of the neighbourhood of Risskov and the neighbourhood of Vejlby. The old neighbourhood of Risskov at the seaside of the Aarhus Bay, is one of the most affluent areas in Denmark. Etymology The name of Risskov literally means ''The Forest of Riis'', as described on the memorial stone marking the entrance to the area and derives from the small local forest of Riis Skov. The southern parts of the forest was granted to the city of Aarhus by Margaret I of Denmark as the first, Danish public forest. In 1542, Christian III of Denmark granted the northern part of the forest to Aarhus as well. From early on, the forest was used for leisurely activities, and during the 1800s, restaurants, entertainment parks and musical pavilions sprung up in different parts of the woodland. Today the forest is known for its sharp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aarhus
Aarhus (, , ; officially spelled Århus from 1948 until 1 January 2011) is the second-largest city in Denmark and the seat of Aarhus Municipality. It is located on the eastern shore of Jutland in the Kattegat sea and approximately northwest of Copenhagen. The largest city in Jutland, Aarhus anchors the Central Denmark Region and the statistical region ' (''LØ'') (lit.: Province East Jutland). The LØ is the second most populous statistical region in Denmark with an estimated population of 903,974 (). Aarhus Municipality defines the greater Aarhus area as itself and eight adjacent municipalities totalling 952,824 inhabitants () which is roughly analogous to the municipal and commercial collaboration Business Region Aarhus. The city proper, with an estimated population of 285,273 inhabitants (), ranks as the 2nd-largest city in Denmark. Aarhus dates back to at least the late 8th century and is among the oldest cities in Denmark. It was founded as a harbour settlement at the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Speech Therapy
Speech is a human vocal communication using language. Each language uses phonetic combinations of vowel and consonant sounds that form the sound of its words (that is, all English words sound different from all French words, even if they are the same word, e.g., "role" or "hotel"), and using those words in their semantic character as words in the lexicon of a language according to the syntactic constraints that govern lexical words' function in a sentence. In speaking, speakers perform many different intentional speech acts, e.g., informing, declaring, asking, persuading, directing, and can use enunciation, intonation, degrees of loudness, tempo, and other non-representational or paralinguistic aspects of vocalization to convey meaning. In their speech, speakers also unintentionally communicate many aspects of their social position such as sex, age, place of origin (through accent), physical states (alertness and sleepiness, vigor or weakness, health or illness), psychological ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
