contiguous gene syndrome


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contiguous gene syndrome

A nonspecific term for any clinical syndrome which is caused by the loss, alteration or mutation of two or more genes that are adjacent to each other on the same chromosome, as occurs in deletion.

Examples
Prader-Willi—microdeletion of 15q11-13; WAGR syndrome—deletion of 11p13.

contiguous gene syndrome

A syndrome featuring a range of apparently unrelated clinical defects that are actually due to deletion of a length of DNA containing adjacent genes the loss of each of which causes a specific defect.
References in periodicals archive ?
(23) Interestingly, the genes TSC2 and PKD1 that cause these 2 diseases lie immediately adjacent to each other on chromosome arm 16p136 and a contiguous gene syndrome has been described.
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. Nat Genet.
Tuberous sclerosis complex with polycystic kidney disease of the adult type: the TSC2/ ADPKD1 contiguous gene syndrome. Int J Surg Pathol.