balanced translocation वाक्य
उदाहरण वाक्य
मोबाइल
- The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation.
- This rearrangement is called a balanced translocation because there is no extra material from chromosome 13.
- A balanced translocation or Robertsonian translocation in one of the partners leads to unviable fetuses that are miscarried.
- Balanced translocation in a parent increases the risk for recurrence and heritability within families ( figure 3 ).
- Increased rate of unexplained fetal loss may be observed in MDS carriers with balanced translocations although they may be otherwise asymptomatic.
- No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems.
- In some cases, a metacentric chromosome is formed by balanced translocation : the fusion of two acrocentric chromosomes to form one metacentric chromosome.
- Biological parents should be tested with fluorescence " in situ " hybridization ( FISH ) to rule out balanced translocations or inversions.
- The parent is usually unaffected, but carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost.
- For example, Slade et al . applied this method to fine map a de novo balanced translocation in a child with Wilms'tumor.
- Although they do not have signs of Patau syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition.
- Rare exceptions may include the presence of a balanced translocation of the X chromosome in a parent, or where the mother has 45, X mosaicism restricted to her germ cells.
- Cytogenetic analysis of myeloma cells may be of prognostic value, with deletion of chromosome 13, non-hyperdiploidy and the balanced translocations t ( 4; 14 ) and t ( 14; 16 ) conferring a poorer prognosis.
- Haploinsufficiency of SIM1 has been shown to cause severe early-onset obesity in a human girl with a de novo balanced translocation between chromosomes 1p22.1 and 6q16.2 and has been suggested to cause a Prader-Willi-like phenotype in other cases.
- Array-based karyotyping cannot detect balanced translocations, such as t ( 4; 14 ) seen in ~ 15 % of MM . Therefore, FISH for this translocation should also be performed if using SNP arrays to detect genome-wide copy number alterations of prognostic significance in MM.
- Array-based karytyping cannot detect balanced translocations, such as t ( 4; 14 ) seen in ~ 15 % of MM . Therefore, FISH for this translocation should also be performed if using SNP arrays to detect genome-wide copy number alterations of prognostic significance in MM.
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