Number of the records: 1  

syndróm delécie 22q11

  1. Record numberd058165
    Date06.06.2025
    TypeM
    Topical termsyndróm delécie 22q11
    UDCC05.660.207.103C14.240.400.021C14.280.400.044C15.604.451.249C16.131.077.019C16.131.240.400.021C16.131.260.019C16.131.482.249C16.131.621.207.103C16.320.180.019C19.642.482.500
    NoteCondition 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.
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Number of the records: 1  

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