
2K12 Kub - Wikipedia
The 2K12 "Kub" (Russian: 2К12 Куб; English: ' cube ') (NATO reporting name: SA-6 "Gainful") mobile surface-to-air missile system is a Soviet low to medium-level air defence system …
Duplication 2p25 in a Child with Clinical Features of CHARGE …
Duplication 2p25 syndrome is a rare and clinically heterogeneous disorder manifest by extra genetic material in variably sized portions of the short arm of chromosome 2. Common …
Duplication 2p25 in a child with clinical features of CHARGE
Here, we present a 15-year-old girl with clinical features of CHARGE syndrome and a de novo 6.5 Mb gain of genomic material at 2p25.3-p25.2. The duplicated region contained 24 genes, …
2p25.3 microduplications involving MYT1L: further phenotypic ...
Our comprehensive review and expansion of the phenotypic spectrum associated with 2p25.3 microduplications involving MYT1L should help clinicians to better assess, counsel and …
What is 2p25.2 deletion syndrome and how is it related to SOX11 syndrome? A well recognized cause of neurodevelopmental conditions is deletion (loss) of chromosome segments. This can …
2p25.3 microduplications involving MYT1L: further phenotypic ...
2023年5月15日 · Our comprehensive review and expansion of the phenotypic spectrum associated with 2p25.3 microduplications involving MYT1L should help clinicians to better …
染色体2p25.3q37.3区段检出242.771 Mb重复,该重复为2号染色体 …
您提问的这个结果表明,2号染色体出现了3条,属于 染色体异常 结果。 染色体2p25.3q37.3区段检出242.771 Mb重复,该重复为2号染色体三体 是什么意思? 正常人一共有46条染色体,共23 …
Refinement of the critical 2p25.3 deletion region: the role of …
Purpose: Submicroscopic deletions of chromosome band 2p25.3 are associated with intellectual disability and/or central obesity. Although MYT1L is believed to be a critical gene responsible …
2p25.3 deletion would only be found in the sperm or egg cells, but not the blood, of the parent. This could theoretically result in a parent who had a normal blood test for the MYT1L gene …
A familial inverted duplication/deletion of 2p25.1–25.3 …
We studied a family in which the same 10 Mb inverted duplication of 2p25.3–p25.1 segregates in two children and their father, all showing a trisomy phenotype. As FISH analysis demonstrated …