101. Di George/Velocardiofacial Syndrome - FISH Analysis digeorge/Velocardiofacial syndrome, Sphrintzen syndrome. The Kleberg Cytogenetics Laboratory offers fluorescence in situ hybridization (FISH)based assays http://www.bcmgeneticlabs.org/tests/cyto/digeorgevelocardiofacial.html

DIGEORGE/VELOCARDIOFACIAL SYNDROME FISH ANALYSIS Open Page in New Window Print This Page Return to Search The Kleberg Cytogenetics Laboratory offers fluorescence in situ hybridization (FISH)-based assays for identifying the deletions of 22q associated with DiGeorge syndrome, velocardiofacial syndrome (VCFS), Shprintzen syndrome and isolated conotruncal cardiac defects, and deletions on 10p associated with the DiGeorge Syndrome II locus. The laboratory tests for both critical regions (10p13p14 and 22q11.2) using a dual-probe FISH assay. Clinical Features: The phenotypic features of DiGeorge syndrome consist of thymic aplasia or hypoplasia, hypocalcemia and conotruncal cardiac defects. Many patients die of cardiac complications or infections due to poor immunity. Velocardiofacial (Shprintzen) syndrome often presents with overt or submucous cleft palate, conotruncal defects, hypotonia, dysmorphic facies, developmental delay, small stature and velopharyngeal incompetence. Because of significant overlap of both syndromes, some clinicians refer to this syndrome as 22q11 deletion syndrome. There is significant inter- and intrafamilial clinical variability due to deletion of 22q11. A second deletion of 10p13p14 (DiGeorge Syndrome II) has been associated with similar clinical features.

102. Dr. Greene's HouseCalls The doctor answers a question from a mother about strengthening her daughter immune system. Her daughter has DiGeorges syndrome. http://www.drgreene.com/body.cfm?id=21&action=detail&ref=599

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