MeSH 搜索器

22q11 Deletion Syndrome

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
推出的年份: 2011
副标题
树号: C05.660.207.103, C14.240.400.021, C14.280.400.044, C15.604.451.249, C16.131.077.019, C16.131.240.400.021, C16.131.260.019, C16.131.482.249, C16.131.621.207.103, C16.320.180.019, C19.642.482.500
MeSH 单一 ID: D058165
进入的组:
  • 22q11 Deletion Syndromes
  • Deletion Syndrome, 22q11
  • Deletion Syndromes, 22q11
  • Syndrome, 22q11 Deletion
  • Syndromes, 22q11 Deletion
早前的内容:
  • Chromosome Deletion (1997-2010)
  • Chromosomes, Human, Pair 22 (1997-2010)

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