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Tetrasomy 9p
Tetrasomy 9p (also known tetrasomy 9p syndrome) is a rare chromosomal disorder characterized by the presence of two extra copies of the short arm of chromosome 9 (called the p arm), in addition to the usual two. Symptoms of tetrasomy 9p vary widely among affected individuals but typically include varying degrees of delayed growth, abnormal facial features and intellectual disability. Symptoms of the disorder are comparable to those of trisomy 9p. Symptoms and signs The symptoms and prognosis of tetrasomy 9p are highly variable. The severity of the symptoms is largely determined by the size of the isochromosome, the specific regions of chromosome 9p that are duplicated, as well as the number and type of tissues that are affected in the mosaic form. Most patients exhibit some degree of intellectual disability, abnormal skeletal and muscular development, and abnormal facial structures. Cognitive symptoms range from slight learning disabilities to severe deficits in intellectual fun ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 9
Chromosome 9 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about 138 million base pairs of nucleic acids (the building blocks of DNA) and represents between 4.0 and 4.5% of the total DNA in cells. Genes Number of genes These are some of the gene count estimates of human chromosome 9. 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 conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 9. For a complete list, see the link in the infobox on the right. Diseases and disorders The follow ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intellectual Disability
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living. Intellectual functions are defined under DSM-V as reasoning, problem‑solving, planning, abstract thinking, judgment, academic learning, and learning from instruction and experience, and practical understanding confirmed by both clinical assessment and standardized tests. Adaptive behavior is defined in terms of conceptual, social, and practical skills involving tasks performed by people in their everyday lives. Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trisomy 9
Full trisomy 9 is a lethal chromosomal disorder caused by having three copies (trisomy) of chromosome number 9. It can be a viable condition if trisomy affects only part of the cells of the body (mosaicism) or in cases of partial trisomy (trisomy 9p) in which cells have a normal set of two entire chromosomes 9 plus part of a third copy, usually of the short arm of the chromosome (arm p). Presentation Symptoms vary, but usually result in dysmorphisms in the skull, nervous system problems, and developmental delay. Dysmorphisms in the heart, kidneys, and musculoskeletal system may also occur. An infant with complete trisomy 9 surviving 20 days after birth showed clinical features including a small face, wide fontanelle, prominent occiput, micrognathia, low set ears, upslanting palpebral fissures, high-arched palate, short sternum, overlapping fingers, limited hip abduction, rocker bottom feet, heart murmurs and a webbed neck. Trisomy 9p is one of the most frequent autosomal anom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Isochromosome
An isochromosome is an unbalanced structural abnormality in which the arms of the chromosome are mirror images of each other. The chromosome consists of two copies of either the long (q) arm or the short (p) arm because isochromosome formation is equivalent to a simultaneous duplication and deletion of genetic material. Consequently, there is partial trisomy of the genes present in the isochromosome and partial monosomy of the genes in the lost arm. Nomenclature An isochromosome can be abbreviated as i(chromosome number)(centromeric breakpoint). For example, an isochromosome of chromosome 17 containing two q arms can be identified as i(17)(q10).(Medulloblastoma) Mechanism Isochromosomes can be created during mitosis and meiosis through a misdivision of the centromere or U-type strand exchange. Centromere misdivision Under normal separation of sister chromatids in anaphase, the centromere will divide longitudinally, or parallel to the long axis of the chromosome. An isoch ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Small Supernumerary Marker Chromosome
A small supernumerary marker chromosome (sSMC) is an abnormal extra chromosome. It contains copies of parts of one or more normal chromosomes and like normal chromosomes is located in the cell's nucleus, is replicated and distributed into each daughter cell during cell division, and typically has genes which may be expressed. However, it may also be active in causing birth defects and neoplasms (e.g. tumors and cancers). The sSMC's small size makes it virtually undetectable using classical cytogenetic methods: the far larger DNA and gene content of the cell's normal chromosomes obscures those of the sSMC. Newer molecular techniques such as fluorescence in situ hybridization, next generation sequencing, comparative genomic hybridization, and highly specialized cytogenetic G banding analyses are required to study it. Using these methods, the DNA sequences and genes in sSMCs are identified and help define as well as explain any effect(s) it may have on individuals. Human cells t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Meiosis
Meiosis (; , since it is a reductional division) is a special type of cell division of germ cells in sexually-reproducing organisms that produces the gametes, such as sperm or egg cells. It involves two rounds of division that ultimately result in four cells with only one copy of each chromosome ( haploid). Additionally, prior to the division, genetic material from the paternal and maternal copies of each chromosome is crossed over, creating new combinations of code on each chromosome. Later on, during fertilisation, the haploid cells produced by meiosis from a male and female will fuse to create a cell with two copies of each chromosome again, the zygote. Errors in meiosis resulting in aneuploidy (an abnormal number of chromosomes) are the leading known cause of miscarriage and the most frequent genetic cause of developmental disabilities. In meiosis, DNA replication is followed by two rounds of cell division to produce four daughter cells, each with half the number of chr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitosis
In cell biology, mitosis () is a part of the cell cycle in which replicated chromosomes are separated into two new nuclei. Cell division by mitosis gives rise to genetically identical cells in which the total number of chromosomes is maintained. Therefore, mitosis is also known as equational division. In general, mitosis is preceded by S phase of interphase (during which DNA replication occurs) and is often followed by telophase and cytokinesis; which divides the cytoplasm, organelles and cell membrane of one cell into two new cells containing roughly equal shares of these cellular components. The different stages of mitosis altogether define the mitotic (M) phase of an animal cell cycle—the division of the mother cell into two daughter cells genetically identical to each other. The process of mitosis is divided into stages corresponding to the completion of one set of activities and the start of the next. These stages are preprophase (specific to plant cells), prophase ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate properly during cell division (mitosis/meiosis). There are three forms of nondisjunction: failure of a pair of homologous chromosomes to separate in meiosis I, failure of sister chromatids to separate during meiosis II, and failure of sister chromatids to separate during mitosis. Nondisjunction results in daughter cells with abnormal chromosome numbers (aneuploidy). Calvin Bridges and Thomas Hunt Morgan are credited with discovering nondisjunction in ''Drosophila melanogaster'' sex chromosomes in the spring of 1910, while working in the Zoological Laboratory of Columbia University. Types In general, nondisjunction can occur in any form of cell division that involves ordered distribution of chromosomal material. Higher animals have three distinct forms of such cell divisions: Meiosis I and meiosis II are specialized forms of cell division occurring during generation of gametes (eggs and sperm) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Centromere
The centromere links a pair of sister chromatids together during cell division. This constricted region of chromosome connects the sister chromatids, creating a short arm (p) and a long arm (q) on the chromatids. During mitosis, spindle fibers attach to the centromere via the kinetochore. The physical role of the centromere is to act as the site of assembly of the kinetochores – a highly complex multiprotein structure that is responsible for the actual events of chromosome segregation – i.e. binding microtubules and signaling to the cell cycle machinery when all chromosomes have adopted correct attachments to the spindle, so that it is safe for cell division to proceed to completion and for cells to enter anaphase. There are, broadly speaking, two types of centromeres. "Point centromeres" bind to specific proteins that recognize particular DNA sequences with high efficiency. Any piece of DNA with the point centromere DNA sequence on it will typically form a centromere if pr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dicentric Chromosome
A dicentric chromosome is an abnormal chromosome with two centromeres. It is formed through the fusion of two chromosome segments, each with a centromere, resulting in the loss of acentric fragments (lacking a centromere) and the formation of dicentric fragments. The formation of dicentric chromosomes has been attributed to genetic processes, such as Robertsonian translocation and paracentric inversion. Dicentric chromosomes have important roles in the mitotic stability of chromosomes and the formation of pseudodicentric chromosomes. Their existence has been linked to certain natural phenomena such as irradiation and have been documented to underlie certain clinical syndromes, notably Kabuki syndrome. The formation of dicentric chromosomes and their implications on centromere function are studied in certain clinical cytogenetics laboratories. Formation Most dicentric chromosomes are known to form through chromosomal inversions, which are rotations in regions of a chromosome due t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mosaic (genetics)
Mosaicism or genetic mosaicism is a condition in multicellular organisms in which a single 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. Genetic mosaics may often be confused with chimerism, in which two or more genotypes arise in one individual similarly to mosaicism. In chimerism, though, the two genotypes arise from the fusion of more than one fertilized zygote in the early stages of embryonic development, rather than from a mutation or chromosome loss. 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 ce ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Galactose-1-phosphate Uridylyltransferase
Galactose-1-phosphate uridylyltransferase (or GALT, G1PUT) is an enzyme () responsible for converting ingested galactose to glucose. Galactose-1-phosphate uridylyltransferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely: :UDP-glucose + galactose 1-phosphate \rightleftharpoons glucose 1-phosphate + UDP-galactose The expression of GALT is controlled by the actions of the FOXO3 gene. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Image:D-galactose Fischer.png, galactose Image:D-glucose-chain-2D-Fischer.png, glucose Mechanism GALT catalyzes the second reaction of the Leloir pathway of galactose metabolism through ping pong bi-bi kinetics with a double displacement mechanism. This means that the net reaction consists of two reactants and two products (see the reaction ab ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
