Anagram & Information om | Engelska ordet TRISOMY

Exempel på hur man kan använda TRISOMY i en mening

• Down syndrome (United States) or Down's syndrome (United Kingdom and other English-speaking nations), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
• A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two.
• Deviations from the expected number of chromosomes (46 in humans) could lead to a diagnosis of certain genetic conditions such as trisomy 21 (Down syndrome) or monosomy X (Turner syndrome).
• Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis; the mosaic form is caused by nondisjunction during mitosis.
• Although uncommon in the syndrome, trisomy 18 causes a large portion of prenatally diagnosed cases of Dandy–Walker malformation.
• Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, trisomy 18, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome.
• In addition to Down syndrome, the triple and quadruple screens assess risk for fetal trisomy 18 also known as Edwards syndrome, open neural tube defects, and may also detect an increased risk of Turner syndrome, triploidy, trisomy 16 mosaicism, fetal death, Smith–Lemli–Opitz syndrome, and steroid sulfatase deficiency.
• Patau syndrome (trisomy 13), a chromosomal abnormality that can cause a number of deformities, some of which include structural eye defects, including microphthalmia, Peters anomaly, cataract, iris and/or fundus coloboma, retinal dysplasia or retinal detachment, sensory nystagmus, cortical visual loss, and optic nerve hypoplasia.
• While the implications of this law for defining viability in medicine may not be fully explored, in practice doctors and nurses are advised not to resuscitate such persons with gestational age of 22 weeks or less, under 400 g weight, with anencephaly, or with a confirmed diagnosis of trisomy 13 or 18.
• Patau syndrome, mosaic trisomy 9, 13q deletion syndrome, Wolf–Hirschhorn syndrome) or monogenetic Mendelian disorders (e.
• For people with disorders like trisomy X, where the genotype has three X chromosomes, X-inactivation will inactivate all X chromosomes until there is only one X chromosome active.
• Cytogenetically, congenital infantile fibrosarcoma is characterized by the majority of cases having a translocation between chromosomes 12 and 15 (notated as t(12;15)(p13;q25)) that results in formation of the fusion gene, ETV6-NTRK3, plus individual cases exhibiting trisomy for chromosomes 8, 11, 17, or 20.
• She has stated in interviews and in a 2009 article in the journal Médecine/Sciences that she worked without assistance from Lejeune to develop the necessary cytological and histological resources and techniques, and used these to prepare microscope slides showing the trisomy.
• Consequently, there is partial trisomy of the genes present in the isochromosome and partial monosomy of the genes in the lost arm.
• Small regions of chromosome 8 trisomy and monosomy are also created by recombinant chromosome 8 syndrome (San Luis Valley syndrome), causing anomalies associated with tetralogy of Fallot, which results from recombination between a typical chromosome 8 and one carrying a parental paracentric inversion.
• It can be a viable condition if the trisomic component affects only part of the cells of the body (mosaicism) or in cases of partial trisomy of the short arm (trisomy 9p) in which cells have a normal set of two entire chromosomes 9 plus part of a third copy of the short arm ("p") of the chromosome.
• These changes include an extra piece of chromosome 22 in each cell (partial trisomy), a missing segment of the chromosome in each cell (partial monosomy), and a circular structure called ring chromosome 22 that is caused by the breakage and reattachment of both ends of the chromosome.
• Despite Castronovo's statements, Karl Sperling, Heidemarie Neitzel and Hagen Scherb reported that the prevalence of Down syndrome (trisomy 21) in West Berlin, Germany, peaked 9 months following the main fallout.
• The chromosomal conditions trisomy 9 and trisomy 21 (Down syndrome) can cause the palpebral fissures to be upslanted, whereas Marfan syndrome can cause a downslant.
• Rather than having monosomy, or only one copy, the majority of aneuploid people have trisomy, or three copies of one chromosome.

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