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Potocki–Shaffer Syndrome
Potocki–Shaffer syndrome (PSS), also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome, is a rare contiguous gene syndrome that results from the microdeletion In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. Any number of nucleoti ... of section 11.2 on the short arm of chromosome chromosome 11 (human), 11 (11p11.2). The syndrome has its name from Dr. Lorraine Potocki, Lorraine (Lori) Potocki and Dr. Lisa Shaffer who discovered the deletion on the 11th chromosome and studied the impacts. The deletion of this combination of genes results in several distinctive congenital disorder, congenital features, occasional defects in the heart, kidneys, and urinary tract. The disorder is associated with an enlarged parietal foramina which can cause openings in the two bones that form the top and sid ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Contiguous Gene Syndrome
A contiguous gene syndrome (CGS), also known as a contiguous gene deletion syndrome, is a clinical phenotype caused by a chromosome, chromosomal abnormality, such as a deletion or duplication that removes several genes lying in close proximity to one another on the chromosome. The combined phenotype of the patient is a combination of what is seen when any individual has disease-causing mutations in any of the individual genes involved in the deletion. While it can be caused by deleted material on a chromosome, it is not, strictly speaking, the same entity as a segmental aneuploidy syndrome. A segmental aneuploidy syndrome is a subtype of CGS that regularly recur, usually due to non-allelic homologous recombination between low copy repeats in the region. Most CGS involve the X chromosome and affect male individuals. One of the earliest and most famous examples of a CGS involves a male patient with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CGD), retinitis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Parent
A parent is a caregiver of the offspring in their own species. In humans, a parent is the caretaker of a child (where "child" refers to offspring, not necessarily age). A ''biological parent'' is a person whose gamete resulted in a child, a male through the sperm, and a female through the ovum. Biological parents are first-degree relatives and have 50% genetic meet. A female can also become a parent through surrogacy. Some parents may be adoptive parents, who nurture and raise an offspring, but are not biologically related to the child. Orphans without adoptive parents can be raised by their grandparents or other family members. A parent can also be elaborated as an ancestor removed one generation. With recent medical advances, it is possible to have more than two biological parents. Examples of third biological parents include instances involving surrogacy or a third person who has provided DNA samples during an assisted reproductive procedure that has altered the recipients' g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 11 (human)
Chromosome 11 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome. Chromosome 11 spans about 135 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells. The shorter arm (p arm) is termed 11p while the longer arm (q arm) is 11q. At about 21.5 genes per megabase, chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome. More than 40% of the 856 olfactory receptor genes in the human genome are located in 28 single-gene and multi-gene clusters along the chromosome. Gene Number of genes The following are some of the gene count estimates of human chromosome 11. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Urinary Tract
The urinary system, also known as the urinary tract or renal system, consists of the kidneys, ureters, bladder, and the urethra. The purpose of the urinary system is to eliminate waste from the body, regulate blood volume and blood pressure, control levels of electrolytes and metabolites, and regulate blood pH. The urinary tract is the body's drainage system for the eventual removal of urine. The kidneys have an extensive blood supply via the renal arteries which leave the kidneys via the renal vein. Each kidney consists of functional units called nephrons. Following filtration of blood and further processing, wastes (in the form of urine) exit the kidney via the ureters, tubes made of smooth muscle fibres that propel urine towards the urinary bladder, where it is stored and subsequently expelled from the body by urination (voiding). The female and male urinary system are very similar, differing only in the length of the urethra. Urine is formed in the kidneys through a filtrati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney
The kidneys are two reddish-brown bean-shaped organs found in vertebrates. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal arteries; blood exits into the paired renal veins. Each kidney is attached to a ureter, a tube that carries excreted urine to the bladder. The kidney participates in the control of the volume of various body fluids, fluid osmolality, acid–base balance, various electrolyte concentrations, and removal of toxins. Filtration occurs in the glomerulus: one-fifth of the blood volume that enters the kidneys is filtered. Examples of substances reabsorbed are solute-free water, sodium, bicarbonate, glucose, and amino acids. Examples of substances secreted are hydrogen, ammonium, potassium and uric acid. The nephron is the structural and functional unit of the kidney. Each adult human kidney contains around 1 million nephrons, while a mouse kidney contains on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heart
The heart is a muscular organ in most animals. This organ pumps blood through the blood vessels of the circulatory system. The pumped blood carries oxygen and nutrients to the body, while carrying metabolic waste such as carbon dioxide to the lungs. In humans, the heart is approximately the size of a closed fist and is located between the lungs, in the middle compartment of the chest. In humans, other mammals, and birds, the heart is divided into four chambers: upper left and right atria and lower left and right ventricles. Commonly the right atrium and ventricle are referred together as the right heart and their left counterparts as the left heart. Fish, in contrast, have two chambers, an atrium and a ventricle, while most reptiles have three chambers. In a healthy heart blood flows one way through the heart due to heart valves, which prevent backflow. The heart is enclosed in a protective sac, the pericardium, which also contains a small amount of fluid. The wall ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vision Problems
Visual impairment, also known as vision impairment, is a medical definition primarily measured based on an individual's better eye visual acuity; in the absence of treatment such as correctable eyewear, assistive devices, and medical treatment– visual impairment may cause the individual difficulties with normal daily tasks including reading and walking. Low vision is a functional definition of visual impairment that is chronic, uncorrectable with treatment or correctable lenses, and impacts daily living. As such low vision can be used as a disability metric and varies based on an individual's experience, environmental demands, accommodations, and access to services. The American Academy of Ophthalmology defines visual impairment as the best-corrected visual acuity of less than 20/40 in the better eye, and the World Health Organization defines it as a presenting acuity of less than 6/12 in the better eye. The term blindness is used for complete or nearly complete vision loss. In ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Down-turned Mouth
A frown (also known as a scowl) is a facial expression in which the eyebrows are brought together, and the forehead is wrinkled, usually indicating displeasure, sadness or worry, or less often confusion or concentration. The appearance of a frown varies by culture. An alternative usage in North America is thought of as an expression of the mouth. In those cases when used iconically, as with an emoticon, it is entirely presented by the curve of the lips forming a down-open curve. The mouth expression is also commonly referred to in the colloquial English phrase, especially in the United States, to "turn that frown upside down" which indicates changing from sad to happy. Description Charles Darwin described the primary act of frowning as the furrowing of the brow which leads to a rise in the upper lip and a down-turning of the corners of the mouth. While the appearance of a frown varies from culture to culture, there appears to be some degree of universality to the recogniti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Philtrum
The philtrum ( la, philtrum from Ancient Greek ''phíltron,'' lit. "love charm"), or medial cleft, is a vertical indentation in the middle area of the upper lip, common to therian mammals, extending in humans from the nasal septum to the tubercle of the upper lip. Together with a glandular rhinarium and slit-like nostrils, it is believed to constitute the primitive condition for at least therian mammals. Monotremes lack a philtrum, though this could be due to the specialised, beak-like jaws in living species. Function In most mammals, the philtrum is a narrow groove that may carry dissolved odorants from the rhinarium or nose pad to the vomeronasal organ via ducts inside the mouth. For humans and most primates, the philtrum survives only as a vestigial medial depression between the nose and upper lip. The human philtrum, bordered by ridges, is also known as the ''infranasal depression'', but has no apparent function. That may be because most higher primates rely more on vision ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brachycephaly
Brachycephaly (derived from the Ancient Greek '' βραχύς'', 'short' and '' κεφαλή'', 'head') is the shape of a skull shorter than typical for its species. It is perceived as a desirable trait in some domesticated dog and cat breeds, notably the pug and Persian, and can be normal or abnormal in other animal species. In humans, the cephalic disorder is known as flat head syndrome, and results from premature fusion of the coronal sutures, or from external deformation. The coronal suture is the fibrous joint that unites the frontal bone with the two parietal bones of the skull. The parietal bones form the top and sides of the skull. This feature can be seen in Down syndrome. In anthropology, human populations have been characterized as either dolichocephalic (long-headed), mesaticephalic (moderate-headed), or brachycephalic (short-headed). The usefulness of the cephalic index was questioned by Giuseppe Sergi, who argued that cranial morphology provided a better mean ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Social Skills
A social skill is any competence facilitating interaction and communication with others where social rules and relations are created, communicated, and changed in verbal and nonverbal ways. The process of learning these skills is called socialization. Lack of such skills can cause ''social awkwardness''. Interpersonal skills are actions used to effectively interact with others. Interpersonal skills relate to categories of dominance vs. submission, love vs. hate, affiliation vs. aggression, and control vs. autonomy (Leary, 1957). Positive interpersonal skills include persuasion, active listening, delegation, and stewardship, among others. Social psychology, an academic discipline focused on research relating to social functioning, studies how interpersonal skills are learned through societal-based changes in attitude, thinking, and behavior. Enumeration and categorization Social skills are the tools that enable people to communicate, learn, ask for help, get needs met in appro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
