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Burnside–Butler Syndrome
Burnside–Butler syndrome is a name that has been applied to the effects of microdeletion of DNA sequences involving four neurodevelopmental genes (TUBGCP5, CYFIP1, NIPA1, and NIPA2). Varying developmental and psychiatric disorders have been attributed to the microdeletion; however, the great majority of people with the deletion do not have any clinical features associated with it. More studies are needed to delineate the range of clinical presentation. The 15q11.2 BP1–BP2 microdeletion (Burnside–Butler syndrome) was the most common cytogenetic abnormality found in a recent study using ultra-high resolution chromosomal microarray analysis optimized for neurodevelopmental disorders of 10,351 consecutive patients presenting for genetic laboratory testing who had autism spectrum disorders (ASD). It may represent an under-recognized contributor to the global prevalence of ASD, which is a common clinical manifestation of many rare genetic disorder A genetic disorder is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 nucleotides can be deleted, from a single base to an entire piece of chromosome. Some chromosomes have fragile spots where breaks occur which result in the deletion of a part of chromosome. The breaks can be induced by heat, viruses, radiations, chemicals. When a chromosome breaks, a part of it is deleted or lost, the missing piece of chromosome is referred to as deletion or a deficiency. For synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog, the unpaired region of the normal homolog must loop out of the linear structure into a deletion or compensation loop. The smallest single base deletion mutations occur by a single base flipping in the template DNA, followed by template DNA strand slipp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TUBGCP5
Gamma-tubulin complex component 5 is a protein that in humans is encoded by the ''TUBGCP5'' gene. It is part of the gamma tubulin complex, which required for microtubule nucleation at the centrosome. See also *Tubulin * TUBGCP2 * TUBGCP3 * TUBGCP4 * TUBGCP6 Gamma-tubulin complex component 6 is a protein that in humans is encoded by the ''TUBGCP6'' gene. It is part of the gamma tubulin complex, which required for microtubule nucleation at the centrosome. See also * Tubulin * TUBGCP2 * TUBGCP3 * TUB ... References Further reading * * * * * * * {{gene-15-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CYFIP1
Cytoplasmic FMR1-interacting protein 1 is a protein that in humans is encoded by the ''CYFIP1'' gene. Interactions CYFIP1 has been shown to interact with FMR1, to the exclusion of FXR1 and FXR2. It also forms part of the WAVE regulatory complex The WAVE regulatory complex (WRC, SCAR complex) is a five-subunit protein complex in the Wiskott-Aldrich syndrome protein (WASP) family involved in the formation of the actin cytoskeleton through interaction with the Arp2/3 complex. The holocomplex ... (WRC), and based on the crystal structure of the WRC it is believed CYFIP1 provides the binding site for the complex to Rac1. References Further reading * * * * * * * * * * * * * * External links * * {{gene-15-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NIPA1
Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the ''NIPA1'' gene. This gene encodes a potential transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter. This protein is thought to play a role in nervous system development and maintenance. Alternative splice variants have been described, but their biological nature has not been determined. Mutations in this gene have been associated with the human genetic disease autosomal dominant spastic paraplegia 6. Model organisms Model organisms have been used in the study of NIPA1 function. A conditional knockout mouse line, called ''Nipa1tm1a(KOMP)Wtsi'' was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute. Male and female animal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NIPA2
Non-imprinted in Prader-Willi/Angelman syndrome region protein 2 is a protein that in humans is encoded by the ''NIPA2'' 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 ba .... References Further reading * * * * * * * {{gene-15-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Developmental Disorder
Developmental disorders comprise a group of psychiatric conditions originating in childhood that involve serious impairment in different areas. There are several ways of using this term. The most narrow concept is used in the category "Specific Disorders of Psychological Development" in the ICD-10. These disorders comprise developmental language disorder, learning disorders, motor disorders, and autism spectrum disorders. In broader definitions ADHD is included, and the term used is neurodevelopmental disorders. Yet others include antisocial behavior and schizophrenia that begins in childhood and continues through life. However, these two latter conditions are not as stable as the other developmental disorders, and there is not the same evidence of a shared genetic liability. Developmental disorders are present from early life. Most improve as the child grows older, but some entail impairments that continue throughout life. Emergence Learning disabilities are diagnosed when the c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Psychiatric Disorder
A mental disorder, also referred to as a mental illness or psychiatric disorder, is a behavioral or mental pattern that causes significant distress or impairment of personal functioning. Such features may be persistent, relapsing and remitting, or occur as single episodes. Many disorders have been described, with signs and symptoms that vary widely between specific disorders. Such disorders may be diagnosed by a mental health professional, usually a clinical psychologist or psychiatrist. The causes of mental disorders are often unclear. Theories may incorporate findings from a range of fields. Mental disorders are usually defined by a combination of how a person behaves, feels, perceives, or thinks. This may be associated with particular regions or functions of the brain, often in a social context. A mental disorder is one aspect of mental health. Cultural and religious beliefs, as well as social norms, should be taken into account when making a diagnosis. Services ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Clinical Presentation
In a physical examination, medical examination, or clinical examination, a medical practitioner examines a patient for any possible medical signs or symptoms of a medical condition. It generally consists of a series of questions about the patient's medical history followed by an examination based on the reported symptoms. Together, the medical history and the physical examination help to determine a diagnosis and devise the treatment plan. These data then become part of the medical record. Types Routine The ''routine physical'', also known as ''general medical examination'', ''periodic health evaluation'', ''annual physical'', ''comprehensive medical exam'', ''general health check'', ''preventive health examination'', ''medical check-up'', or simply ''medical'', is a physical examination performed on an asymptomatic patient for medical screening purposes. These are normally performed by a pediatrician, family practice physician, physician assistant, a certified nurse pract ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cytogenetic
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] |
Chromosomal Microarray Analysis
Comparative genomic hybridization (CGH) is a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells. The aim of this technique is to quickly and efficiently compare two genomic DNA samples arising from two sources, which are most often closely related, because it is suspected that they contain differences in terms of either gains or losses of either whole chromosomes or subchromosomal regions (a portion of a whole chromosome). This technique was originally developed for the evaluation of the differences between the chromosomal complements of solid tumor and normal tissue, and has an improved resolution of 5–10 megabases compared to the more traditional cytogenetic analysis techniques of giemsa banding and fluorescence in situ hybridization (FISH) which are limited by the resolution of the microscope utilized.Strachan T, Read AP (2010) Human ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurodevelopmental Disorder
Neurodevelopmental disorders are a group of disorders that affect the development of the nervous system, leading to abnormal brain function which may affect emotion, learning ability, self-control, and memory. The effects of neurodevelopmental disorders tend to last for a person's lifetime. Types Neurodevelopmental disorders are impairments of the growth and development of the brain and/or central nervous system. A narrower use of the term refers to a disorder of brain function that affects emotion, learning ability, self-control and memory which unfolds as an individual develops and grows. According to the DSM-5, the neurodevelopmental disorders include the following: # Attention deficit hyperactivity disorder (ADHD) # DLD - Developmental language disorder (formerly known as SLI- Specific Language Impairment) # Communication, speech, or language disorders, expressive language disorder, fluency disorder, social (pragmatic) communication disorder, and speech sound disorder. # ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Testing
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, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
