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syndróm delécie 22q11

Č. záznamu	d058165
Dátum	06.06.2025
Typ	M - MESH
Tematický termín	syndróm delécie 22q11
MDT	C05.660.207.103C14.240.400.021C14.280.400.044C15.604.451.249C16.131.077.019C16.131.240.400.021C16.131.260.019C16.131.482.249C16.131.621.207.103C16.320.180.019C19.642.482.500
Poznámka	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.

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