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Langer–Giedion Syndrome
Langer–Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a deletion of a small section of material on chromosome 8. It is named after the two doctors who undertook the main research into the condition in the 1960s. Diagnosis is usually made at birth or in early childhood. Signs and symptoms The features associated with this condition include: mild to moderate learning difficulties, short stature, unique facial features, small head and skeletal abnormalities including bony growths projecting from the surfaces of bones. Craniofacial Individuals with Langer–Giedion syndrome may display characteristic craniofacial abnormalities. These include a long prominent philtrum, a thin upper lip, wide spaced eyes, a bulbous nasal tip, a broad nasal bridge, wide nostrils, micrognathia, retrognathia, deep set eyes and large ears. The head itself is often unusually small in comparison to that of unaffected individuals of the same age and sex. Dental ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tricho-rhino-phalangeal Syndrome Type 1
Zinc finger transcription factor Trps1 is a protein that in humans is encoded by the ''TRPS1'' gene. This gene encodes a GATA-like transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho–rhino–phalangeal syndrome (TRPS) types I–III (also known as the Langer–Giedion syndrome Langer–Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a deletion of a small section of material on chromosome 8. It is named after the two doctors who undertook the main research into the condition in th ...). References Further reading * External links * Transcription factors {{gene-8-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Clinodactyly
Clinodactyly is a medical term describing the curvature of a digit (a finger or toe) in the plane of the palm, most commonly the fifth finger (the "little finger") towards the adjacent fourth finger (the "ring finger"). It is a fairly common isolated anomaly which often goes unnoticed, but also occurs in combination with other abnormalities in certain genetic syndromes. The term is from the Ancient Greek κλίνειν ' 'to bend' and δάκτυλος ' 'digit'. Genetics Clinodactyly is an autosomal dominant trait that has variable expressiveness and incomplete penetrance. Clinodactyly can be passed through inheritance and presents as either an isolated anomaly or a component manifestation of a genetic syndrome. Many syndromes are associated with clinodactyly, including those listed below. But the phenotype, by itself, is not a sensitive or specific diagnostic test for these syndromes (it is present in up to 18% of the normal population). * Down syndrome * Turner syndrome * Aa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant Disorders
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
External Fixation
External fixation is a surgical treatment wherein rods are screwed into bone and exit the body to be attached to a stabilizing structure on the outside of the body. It is an alternative to internal fixation, where the components used to provide stability are positioned entirely within the patient's body. It is used to stabilize bone and soft tissues at a distance from the operative or injury focus. They provide unobstructed access to the relevant skeletal and soft tissue structures for their initial assessment and also for secondary interventions needed to restore bony continuity and a functional soft tissue cover. Indications # Stabilization of severe open fractures # Stabilization of infected nonunions # Correction of extremity malalignments and length discrepancies # Initial stabilization of soft tissue and bony disruption in poly trauma patients (damage control orthopaedics) # Closed fracture with associated severe soft tissue injuries # Severely comminuted diaphyseal and per ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cytogenetics
Cytogenetics is essentially a branch of genetics, but is also a part of cell biology/cytology (a subdivision of human anatomy), that is concerned with how the chromosomes relate to cell behaviour, particularly to their behaviour during mitosis and meiosis. Techniques used include karyotyping, analysis of G-banded chromosomes, other cytogenetic banding techniques, as well as molecular cytogenetics such as fluorescent ''in situ'' hybridization (FISH) and comparative genomic hybridization (CGH). History Beginnings Chromosomes were first observed in plant cells by Carl Nägeli in 1842. Their behavior in animal (salamander) cells was described by Walther Flemming, the discoverer of mitosis, in 1882. The name was coined by another German anatomist, von Waldeyer in 1888. The next stage took place after the development of genetics in the early 20th century, when it was appreciated that the set of chromosomes (the karyotype) was the carrier of the genes. Levitsky seems to have been t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
EXT1
Exostosin-1 is a protein that in humans is encoded by the ''EXT1'' gene. This gene encodes one of the two endoplasmic reticulum-resident type II transmembrane glycosyltransferase – the other being EXT2 – which are involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. Interactions EXT1 has been shown to interact with TRAP1. See also * Langer–Giedion syndrome * Hereditary multiple exostoses Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses ( exostoses) in relation to the ends of long bones of the lower li ... type 1 References Further reading * * * * * * * * * * * * * * * * * * * External links Multiple Hereditary Exostoses Research Foundation {{gene-8-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TRPS1
Zinc finger transcription factor Trps1 is a protein that in humans is encoded by the ''TRPS1'' gene. This gene encodes a GATA-like transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho–rhino–phalangeal syndrome (TRPS) types I–III (also known as the Langer–Giedion syndrome Langer–Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a deletion of a small section of material on chromosome 8. It is named after the two doctors who undertook the main research into the condition in th ...). References Further reading * External links * Transcription factors {{gene-8-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 8
Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 145 million base pairs (the building material of DNA) and represents between 4.5 and 5.0% of the total DNA in cells. About 8% of its genes are involved in brain development and function, and about 16% are involved in cancer. A unique feature of 8p is a region of about 15 megabases that appears to have a high mutation rate. This region shows a significant divergence between human and chimpanzee, suggesting that its high mutation rates have contributed to the evolution of the human brain. __TOC__ Genes Number of genes The following are some of the gene count estimates of human chromosome 8. 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ectodermal Dysplasia
Ectodermal dysplasia (ED) is a group of genetic syndromes all deriving from abnormalities of the ectodermal structures.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . More than 150 different syndromes have been identified. Despite some of the syndromes having different genetic causes, the symptoms are sometimes very similar. Diagnosis is usually by clinical observation, often with the assistance of family medical histories so that it can be determined whether transmission is autosomal dominant or recessive. Ectodermal dysplasias are described as "heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body." Presentation Hair Individuals affected by an ED syndrome frequently have abnormalities of the hair follicles. Scalp and body hair ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hip Dysplasia
Hip dysplasia is an abnormality of the hip joint where the socket portion does not fully cover the ball portion, resulting in an increased risk for joint dislocation. Hip dysplasia may occur at birth or develop in early life. Regardless, it does not typically produce symptoms in babies less than a year old. Occasionally one leg may be shorter than the other. The left hip is more often affected than the right. Complications without treatment can include arthritis, limping, and low back pain. Females are affected more often than males. Hip dysplasia was described at least as early as the 300s BC by Hippocrates. Risk factors for hip dysplasia include female sex, family history, certain swaddling practices, and breech presentation whether an infant is delivered vaginally or by cesarean section. If one identical twin is affected, there is a 40% risk the other will also be affected. Screening all babies for the condition by physical examination is recommended. Ultrasonography may al ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Joint Hypermobility
Hypermobility, also known as double-jointedness, describes joints that stretch farther than normal. For example, some hypermobile people can bend their thumbs backwards to their wrists, bend their knee joints backwards, put their leg behind the head or perform other contortionist "tricks". It can affect one or more joints throughout the body. Hypermobile joints are common and occur in about 10 to 25% of the population, but in a minority of people, pain and other symptoms are present. This may be a sign of what is known as joint hypermobility syndrome (JMS) or, more recently, hypermobility spectrum disorder (HSD). Hypermobile joints are a feature of genetic connective tissue disorders such as hypermobility spectrum disorder (HSD) or Ehlers–Danlos syndromes (EDS). Until new diagnostic criteria were introduced, hypermobility syndrome was sometimes considered identical to hypermobile Ehlers–Danlos syndrome (hEDS), formerly called EDS Type 3. As no genetic test can distinguish th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
