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Tetrasomy
A tetrasomy is a form of aneuploidy with the presence of four copies, instead of the normal two, of a particular chromosome. Causes Full Full tetrasomy of an individual occurs due to non-disjunction when the cells are dividing (meiosis I or II) to form egg and sperm cells ( gametogenesis). This can result in extra chromosomes in a sperm or egg cell. After fertilization, the resulting fetus has 48 chromosomes instead of the typical 46. Autosomal tetrasomies * Cat eye syndrome where partial tetrasomy of chromosome 22 is present * Pallister-Killian syndrome (tetrasomy 12p) * Tetrasomy 9p * Tetrasomy 18p * Tetrasomy 21 A tetrasomy is a form of aneuploidy with the presence of four copies, instead of the normal two, of a particular chromosome. Causes Full Full tetrasomy of an individual occurs due to non-disjunction when the cell division, cells are dividing (mei ..., a rare form of Down syndrome Sex-chromosome tetrasomies * Tetrasomy X * XXYY syndrome * XXXY syndrome ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tetrasomy X
Tetrasomy X, also known as 48,XXXX, is a chromosomal disorder in which a female has four, rather than two, copies of the X chromosome. It is associated with intellectual disability of varying severity, characteristic "coarse" facial features, heart defects, and skeletal anomalies such as increased height, clinodactyly (incurved pinky fingers), and radioulnar synostosis (fusion of the long bones in the forearm). Tetrasomy X is a rare condition, with few medically recognized cases; it is estimated to occur in approximately 1 in 50,000 females. The disorder has a wide range of symptoms, with phenotypes (presentations) ranging from slight to severe. It is suspected to be underdiagnosed, as are other sex chromosome disorders. Life outcomes vary; some women have had education, employment, and children, while others have remained dependent into adulthood. Life expectancy does not appear to be substantially reduced. Tetrasomy X has phenotypic overlap with a number of more common di ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tetrasomy 18p
Tetrasomy 18p is a genetic condition that is caused by the presence of an isochromosome composed of two copies of the short arm of chromosome 18 in addition to the two normal copies of the chromosome. It is characterized by multiple medical and developmental concerns. Tetrasomy 18P World Day is 18th April. Signs and symptoms Tetrasomy 18p causes a wide range of medical and developmental problems.Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, Schatz M, White WA, Perry B, Reinker K, O'Donnell L, Lancaster J, Li J, Hasi M, Hill A, Pankratz L, Hale DE, Cody JD (2010). Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. Am J Med Genet 152A(9): 2164-72. Congenital anomalies Cardiac anomalies are the most common congenital malformation in individuals with tetrasomy 18p. However, there is no pathognomatic heart defect associated with the condition. Patent ductus arteriosus is the most common defect. Septal defects (ventricular septal de ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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] |
Tetrasomy 21
A tetrasomy is a form of aneuploidy with the presence of four copies, instead of the normal two, of a particular chromosome. Causes Full Full tetrasomy of an individual occurs due to non-disjunction when the cell division, cells are dividing (meiosis I or II) to form egg and sperm cells (gametogenesis). This can result in extra chromosomes in a sperm or egg cell. After fertilization, the resulting fetus has 48 chromosomes instead of the typical 46. Autosomal tetrasomies * Cat eye syndrome where partial tetrasomy of chromosome 22 is present * Pallister-Killian syndrome (tetrasomy 12p) * Tetrasomy 9p * Tetrasomy 18p * Tetrasomy 21, a rare form of Down syndrome Sex-chromosome tetrasomies * Tetrasomy X * XXYY syndrome * XXXY syndrome External links {{Chromosomal abnormalities Cytogenetics Chromosomal abnormalities ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aneuploidy
Aneuploidy is the presence of an abnormal number of chromosomes in a cell (biology), cell, for example a human somatic (biology), somatic cell having 45 or 47 chromosomes instead of the usual 46. It does not include a difference of one or more ploidy#Haploid and monoploid, complete sets of chromosomes. A cell with any number of complete chromosome sets is called a ''ploidy#Euploid, euploid'' cell. An extra or missing chromosome is a common cause of some genetic disorders. Some cancer cells also have abnormal numbers of chromosomes. About 68% of human solid tumors are aneuploid. Aneuploidy originates during cell division when the chromosomes do not separate properly between the two cells (nondisjunction). Most cases of aneuploidy in the autosomes result in miscarriage, and the most common extra autosomal chromosomes among live births are Down syndrome, 21, Edwards syndrome, 18 and Patau syndrome, 13. Chromosome abnormality, Chromosome abnormalities are detected in 1 of 160 live huma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
XXYY Syndrome
XXYY syndrome is a sex chromosome anomaly in which males have two extra chromosomes, one X and one Y chromosome. Human cells usually contain two sex chromosomes, one from the mother and one from the father. Usually, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY). The appearance of at least one Y chromosome with a properly functioning SRY gene makes a male. Therefore, humans with XXYY are genotypically male. Males with XXYY syndrome have 48 chromosomes instead of the typical 46. This is why XXYY syndrome is sometimes written as 48, XXYY syndrome or 48, XXYY. It affects an estimated one in every 18,000–40,000 male births. Signs and symptoms Very frequent signs and symptoms of this condition include the following: Cause 48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
XXXY Syndrome
XXXY syndrome is a genetic condition characterized by a sex chromosome aneuploidy, where individuals have two extra X chromosomes. People in most cases have two sex chromosomes: an X and a Y or two X chromosomes. The presence of one Y chromosome with a functioning SRY gene causes the expression of genes that determine maleness. Because of this, XXXY syndrome only affects males. The additional two X chromosomes in males with XXXY syndrome causes them to have 48 chromosomes, instead of the typical 46. XXXY syndrome is therefore often referred to as 48,XXXY. There is a wide variety of symptoms associated with this syndrome, including cognitive and behavioral problems, taurodontism, and infertility. This syndrome is usually inherited via a new mutation in one of the parents' gametes, as those affected by it are usually infertile. It is estimated that XXXY affects one in every 50,000 male births. Signs and symptoms The symptoms of 48,XXXY syndrome are similar to those of Klinefelter ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosomes
A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming packaging proteins; in eukaryotic cells, the most important of these proteins are the histones. Aided by chaperone proteins, the histones bind to and condense the DNA molecule to maintain its integrity. These eukaryotic chromosomes display a complex three-dimensional structure that has a significant role in transcriptional regulation. Normally, chromosomes are visible under a light microscope only during the metaphase of cell division, where all chromosomes are aligned in the center of the cell in their condensed form. Before this stage occurs, each chromosome is duplicated ( S phase), and the two copies are joined by a centromere—resulting in either an X-shaped structure if the centromere is located equatorially, or a two-armed structure if the centromere is located distally; the joined ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
