terminal deletion造句
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- A prototypical terminal deletion of 22q13 can be uncovered by karyotype analysis, but many terminal and interstitial deletions are too small.
- The Developmental Synaptopathies Consortium defines PMS as being caused by " SHANK3 " mutations, a definition that appears to exclude terminal deletions.
- Exposure to blue light induces a conformation similar to that of the always-active CRY mutant with a C-terminal deletion ( CRY? ).
- Genetic testing is necessary to confirm the diagnosis of PMS . A prototypical terminal deletion of 22q13 can be uncovered by karyotype analysis, but many terminal and interstitial deletions are too small to detect with this method.
- Most notably the patient, per formal IQ testing, was not found to have frank mental retardation as has been previously reported among patients with chromosome 3q29 terminal deletion, but rather the patient has demonstrated an average full-scale IQ result.
- Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype ) typical of a terminal deletion may be diagnosed as 22q13 deletion syndrome . 22q13 deletion syndrome is often called "'Phelan-McDermid syndrome "'( abbreviated "'PMS "').
- In general, deletions of 18q fall into one of two categories : interstitial deletions, which typically have breakpoints between 18q11.2 ( 18.9 Mb ) to 18q21.1 ( 43.8 Mb ), and terminal deletions, which typically have a breakpoint distal to 18q21.1 ( 45.4 Mb ) and extend to the end of the chromosome.
- It's difficult to see terminal deletion in a sentence. 用terminal deletion造句挺難的
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