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Cat-eye Syndrome
Cat eye syndrome (CES) or Schmid–Fraccaro syndrome is a rare condition caused by an abnormal extra chromosome, i.e. a small supernumerary marker chromosome. This chromosome consists of the entire short arm and a small section of the long arm of chromosome 22. In consequence, individuals with the cat eye syndrome have three ( trisomic) or four ( tetrasomic) copies of the genetic material contained in the abnormal chromosome instead of the normal two copies. The prognosis for patients with CES varies depending on the severity of the condition and their associated signs and symptoms, especially when heart or kidney abnormalities are seen. Signs and symptoms * Unilateral or bilateral iris coloboma (absence of tissue from the colored part of the eyes) * Preauricular pits/tags (small depressions/growths of skin on the outer ears) * Anal atresia (abnormal obstruction of the anus) * Downward-slanting palpebral fissures (openings between the upper and lower eyelids) * Cleft palate * K ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coloboma
A coloboma (from the Greek , meaning defect) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born. Ocular coloboma is relatively uncommon, affecting less than one in every 10,000 births. The classical description in medical literature is of a keyhole-shaped defect. A coloboma can occur in one eye (unilateral) or both eyes (bilateral). Most cases of coloboma affect only the iris. The level of vision impairment of those with a coloboma can range from having no vision problems to being able to see only light or dark, depending on the position and extent of the coloboma (or colobomata if more than one is present). Signs and symptoms Visual effects may be mild to more severe depending on the size and location of the coloboma. If, for exam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code, or its genotype, and the influence of environmental factors. Both factors may interact, further affecting phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and then again in his 1982 book ''The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as cad ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting Stature
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorders
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be vi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trisomy 22
Trisomy 22 is a chromosomal disorder in which three copies of chromosome 22 are present rather than two. It is a frequent cause of spontaneous abortion during the first trimester of pregnancy. Progression to the second trimester and live birth are rare. This disorder is found in individuals with an extra copy or a variation of chromosome 22 in some or all cells of their bodies. Associated disorders Many kinds of disorders are associated with trisomy 22: * Emanuel syndrome is named after the genetic contributions made by researcher Dr. Beverly Emanuel. This condition is assigned to individuals born with an unbalanced 11/22 translocation. That is, a fragment of chromosome 11 is moved, or translocated, to chromosome 22. * 22q11 deletion syndrome is a rare condition which occurs in about one in 4000 births. This condition is identified when a band in the q11.2 section of the arm of chromosome 22 is missing or deleted. This condition has several different names: 22q11.2 deletion synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Archives Of Ophthalmology
''JAMA Ophthalmology'' (formerly ''Archives of Ophthalmology'') is a monthly peer-reviewed medical journal covering all aspects of ophthalmology. The editor-in-chief is Neil M. Bressler (Johns Hopkins School of Medicine). It is published by the American Medical Association, with which it has been affiliated since 1929. History The journal was established in New York in 1869 as the ''Archives of Ophthalmology and Otology'', with a simultaneous German language version published in Karlsruhe, Germany, as ''Archiv für Augen- und Ohrenheilkunde''; sometimes articles would be slightly different. The editors were Hermann Knapp (New York), who practiced both ophthalmology and otology, with greater emphasis on the eye, and the otologist Salomon Moos (Heidelberg). The journal obtained its current name in 2013. Naming History Abstracting and indexing The journal is abstracted and indexed in: According to ''Journal Citation Reports'', the journal has a 2021 impact factor of 8.253, ran ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Candidate Genes
The candidate gene approach to conducting genetic association studies focuses on associations between genetic variation within pre-specified genes of interest, and phenotypes or disease states. This is in contrast to genome-wide association studies (GWAS), which is a hypothesis-free approach that scans the entire genome for associations between common genetic variants (typically SNPs) and traits of interest. Candidate genes are most often selected for study based on ''a priori'' knowledge of the gene's biological functional impact on the trait or disease in question. The rationale behind focusing on allelic variation in specific, biologically relevant regions of the genome is that certain alleles within a gene may directly impact the function of the gene in question and lead to variation in the phenotype or disease state being investigated. This approach often uses the case-control study design to try to answer the question, "Is one allele of a candidate gene more frequently seen in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ATP6V1E1
V-type proton ATPase subunit E 1 is an enzyme that in humans is encoded by the ''ATP6V1E1'' gene. This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting :''This article deals with protein targeting in eukaryotes unless specified otherwise.'' Protein targeting or protein sorting is the biological mechanism by which proteins are transported to their appropriate destinations within or outside the ce ..., zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice vari ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CECR1
Cat eye syndrome critical region protein 1 is a protein that in humans is encoded by the ''CECR1'' gene. This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein may act as a growth factor and have adenosine deaminase activity. It may be responsible for some of the phenotypic features associated with cat eye syndrome. Two transcript variants encoding distinct isoform A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene or gene family and are the result of genetic differences. While many perform the same or similar biological roles, some iso ...s have been identified for this gene. References External links * Further reading * * * * * * * * {{gene-22-stub ... [...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] |
Karyotype
A karyotype is the general appearance of the complete set of metaphase 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 organized in pairs, ordered by size and position of centromere for chromosomes of the same size. Karyotyping generally combines light microscopy and photography, 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 one on photomicrographs as well ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Base Pairs
A base pair (bp) is a fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. They form the building blocks of the DNA double helix and contribute to the folded structure of both DNA and RNA. Dictated by specific hydrogen bonding patterns, "Watson–Crick" (or "Watson–Crick–Franklin") base pairs (guanine–cytosine and adenine–thymine) allow the DNA helix to maintain a regular helical structure that is subtly dependent on its nucleotide sequence. The complementary nature of this based-paired structure provides a redundant copy of the genetic information encoded within each strand of DNA. The regular structure and data redundancy provided by the DNA double helix make DNA well suited to the storage of genetic information, while base-pairing between DNA and incoming nucleotides provides the mechanism through which DNA polymerase replicates DNA and RNA polymerase transcribes DNA into RNA. Many DNA-binding proteins ca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
