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45,X
Turner syndrome (TS), commonly known as 45,X, or 45,X0,Also written as 45,XO. is a chromosomal disorder in which cells of females have only one X chromosome instead of two, or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the Pseudoautosomal region, pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome. Typically, people have two sex chromosomes (XX for females or XY for males). The chromosomal abnormality is often present in just some cells, in which case it is known as Turner syndrome with mosaicism. 45,X0 with mosaicism can occur in males or females, but Turner syndrome without mosaicism only occurs in females. Signs and symptoms vary among those affected but often include additional skin folds on the neck, arched palate, low-set ears, low hairline at the nape of the neck, short stature, and lymphedema of the hands and feet. Those affected Amenorrhea, do not normally develop menstrual periods or mamma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Karyotype
A karyotype is the general appearance of the complete set of 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 generally organized in pairs, ordered by size and position of centromere for chromosomes of the same size. Karyotyping generally combines light microscopy and photography in the metaphase of the cell cycle, 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X Chromosome
The X chromosome is one of the two sex chromosomes in many organisms, including mammals, 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 the object and consequently named it ''X element'', which later became X chromosome after it was established that it w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Barr Bodies
A Barr body (named after discoverer Murray Barr) or X-chromatin is an inactive X chromosome. In species with XY sex-determination (including humans), females typically have two X chromosomes, and one is rendered inactive in a process called lyonization. Errors in chromosome separation can also result in male and female individuals with extra X chromosomes. The Lyon hypothesis states that in cells with multiple X chromosomes, all but one are inactivated early in embryonic development in mammals.Brown, C.J., Robinson, W.P., (1997), XIST Expression and X-Chromosome Inactivation in Human Preimplantation Embryos ''Am. J. Hum. Genet.'' 61, 5–8Full Text PDF The X chromosomes that become inactivated are chosen randomly, except in marsupials and in some extra-embryonic tissues of some placental mammals, in which the X chromosome from the sperm is always deactivated. In humans with euploidy, a genotypical female (46, XX karyotype) has one Barr body per somatic cell nucleus, w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mosaicism
Mosaicism or genetic mosaicism is a condition in which a multicellular organism possesses more than one genetic line as the result of genetic mutation. This means that various genetic lines resulted from a single fertilized egg. Mosaicism is one of several possible causes of chimerism, wherein a single organism is composed of cells with more than one distinct genotype. Genetic mosaicism can result from many different mechanisms including chromosome nondisjunction, anaphase lag, and endoreplication. Anaphase lagging is the most common way by which mosaicism arises in the preimplantation embryo. Mosaicism can also result from a mutation in one cell during development, in which case the mutation will be passed on only to its daughter cells (and will be present only in certain adult cells). Somatic mosaicism is not generally inheritable as it does not generally affect germ cells. History In 1929, Alfred Sturtevant studied mosaicism in ''Drosophila'', a genus of fruit fly. H. J. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pseudoautosomal Region
The pseudoautosomal regions or PARs are Homology (biology), homologous sequences of Nucleotide, nucleotides found within the Sex chromosome, sex chromosomes of species with an XY sex-determination system, XY or ZW sex-determination system, ZW mechanism of Sex-determination system, sex determination. 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. In humans, these regions are referred to as PAR1 and PAR2. 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 154 Mbp and 62 Mbp in total). PAR2 is at the tips of the long arms, spanning 320 kbp. The Monotreme, monotremes, including the platypus and echidna, have a multiple sex chromosome system, and consequently have 8 pseudoautosomal regions. Location The locations of the PARs within Genome Reference Consortium, GRCh38 are: The locations of the PARs within GR ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mathematics
Mathematics is a field of study that discovers and organizes methods, Mathematical theory, theories and theorems that are developed and Mathematical proof, proved for the needs of empirical sciences and mathematics itself. There are many areas of mathematics, which include number theory (the study of numbers), algebra (the study of formulas and related structures), geometry (the study of shapes and spaces that contain them), Mathematical analysis, analysis (the study of continuous changes), and set theory (presently used as a foundation for all mathematics). Mathematics involves the description and manipulation of mathematical object, abstract objects that consist of either abstraction (mathematics), abstractions from nature orin modern mathematicspurely abstract entities that are stipulated to have certain properties, called axioms. Mathematics uses pure reason to proof (mathematics), prove properties of objects, a ''proof'' consisting of a succession of applications of in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Diabetes Mellitus
Diabetes mellitus, commonly known as diabetes, is a group of common endocrine diseases characterized by sustained hyperglycemia, high blood sugar levels. Diabetes is due to either the pancreas not producing enough of the hormone insulin, or the cells of the body becoming unresponsive to insulin's effects. Classic symptoms include polydipsia (excessive thirst), polyuria (excessive urination), polyphagia (excessive hunger), Weight loss#Unintentional, weight loss, and blurred vision. If left untreated, the disease can lead to various health complications, including disorders of the Cardiovascular disease, cardiovascular system, Diabetic retinopathy, eye, Diabetic nephropathy, kidney, and Diabetic neuropathy, nerves. Diabetes accounts for approximately 4.2 million deaths every year, with an estimated 1.5 million caused by either untreated or poorly treated diabetes. The major types of diabetes are Type 1 diabetes, type 1 and Type 2 diabetes, type 2. The most common treatment for ty ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypothyroidism
Hypothyroidism is an endocrine disease in which the thyroid gland does not produce enough thyroid hormones. It can cause a number of symptoms, such as cold intolerance, poor ability to tolerate cold, fatigue, extreme fatigue, muscle aches, constipation, slow heart rate, Depression (mood), depression, and weight gain. Occasionally there may be swelling of the front part of the neck due to goiter. Untreated cases of hypothyroidism during pregnancy can lead to delays in child development, growth and intellectual development in the baby or congenital iodine deficiency syndrome. Worldwide, iodine deficiency, too little iodine in the diet is the most common cause of hypothyroidism. Hashimoto's thyroiditis, an autoimmune disease where the body's immune system reacts to the thyroid gland, is the most common cause of hypothyroidism in countries with sufficient dietary iodine. Less common causes include previous treatment with iodine-131, radioactive iodine, injury to the hypothalamus ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spatial Visualization
Spatial visualization ability or visual-spatial ability is the ability to mentally manipulate 2-dimensional and 3-dimensional figures. It is typically measured with simple cognitive tests and is predictive of user performance with some kinds of user interfaces. Measurement The cognitive tests used to measure spatial visualization ability including mental rotation tasks like the Mental Rotations Test or mental cutting tasks like the Mental Cutting Test; and cognitive tests like the VZ-1 (Form Board), VZ-2 (Paper Folding), and VZ-3 (Surface Development) tests from the Kit of Factor-Reference cognitive tests produced by Educational Testing Service. Though the descriptions of spatial visualization and mental rotation sound similar, mental rotation is a particular task that can be accomplished using spatial visualization. The Minnesota Paper Form Board Test involves giving participants a shape and a set of smaller shapes which they are then instructed to determine which combina ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pediatrics
Pediatrics (American English) also spelled paediatrics (British English), is the branch of medicine that involves the medical care of infants, children, Adolescence, adolescents, and young adults. In the United Kingdom, pediatrics covers many of their youth until the age of 18. The American Academy of Pediatrics recommends people seek pediatric care through the age of 21, but some pediatric subspecialists continue to care for adults up to 25. Worldwide age limits of pediatrics have been trending upward year after year. A physician, medical doctor who specializes in this area is known as a pediatrician, or paediatrician. The word ''pediatrics'' and its cognates mean "healer of children", derived from the two Ancient Greek, Greek words: (''pais'' "child") and (''iatros'' "doctor, healer"). Pediatricians work in clinics, research centers, universities, general hospitals and children's hospitals, including those who practice pediatric subspecialties (e.g. neonatology requires reso ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ring Chromosome
A ring chromosome is an aberrant chromosome whose ends have fused together to form a ring. Ring chromosomes were first observed in ''Drosphila'' by Lilian Vaughan Morgan in 1926 and in maize by Barbara McClintock in 1931. A ring chromosome is denoted by the symbol ''r'' in human genetics and ''R'' in ''Drosophila'' genetics. Ring chromosomes may form in cells following genetic damage by mutagens like radiation, but they may also arise spontaneously during development. Formation In order for a chromosome to form a ring, both ends of the chromosome are usually missing, enabling the broken ends to fuse together. In rare cases, the telomeres at the ends of a chromosome fuse without any loss of genetic material, which results in a normal phenotype. Complex rearrangements, including segmental microdeletions and microduplications, have been seen in numerous ring chromosomes, providing important clues regarding the mechanisms of their formation. Small supernumerary rings can also fo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infertile
In biology, infertility is the inability of a male and female organism to reproduce. It is usually not the natural state of a healthy organism that has reached sexual maturity, so children who have not undergone puberty, which is the body's start of reproductive capacity, are excluded. It is also a normal state in women after menopause. In humans, ''infertility'' is defined as the inability to become pregnant after at least one year of unprotected and regular sexual intercourse involving a male and female partner. There are many causes of infertility, including some that medical intervention can treat. Estimates from 1997 suggest that worldwide about five percent of all heterosexual couples have an unresolved problem with infertility. Many more couples, however, experience involuntary childlessness for at least one year, with estimates ranging from 12% to 28%. Male infertility is responsible for 20–30% of infertility cases, while 20–35% are due to female infertility, and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
