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Interstitial 6q25 microdeletion syndrome: 46,XX,del(6)(q25.2q26).

08:00 EDT 13th June 2019 | BioPortfolio

Summary of "Interstitial 6q25 microdeletion syndrome: 46,XX,del(6)(q25.2q26)."

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Name: Pediatrics international : official journal of the Japan Pediatric Society
ISSN: 1442-200X
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Medical and Biotech [MESH] Definitions

A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.

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Inflammation of the interstitial tissue of the kidney. This term is generally used for primary inflammation of KIDNEY TUBULES and/or surrounding interstitium. For primary inflammation of glomerular interstitium, see GLOMERULONEPHRITIS. Infiltration of the inflammatory cells into the interstitial compartment results in EDEMA, increased spaces between the tubules, and tubular renal dysfunction.

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