contiguous gene syndrome
A term of art for a hereditary condition caused by the deletion of part of a chromosome bearing multiple genes.
As an example, hypotonia-cystinuria syndrome (OMIM:606407) is caused by a deletion of SLC3A1–which results in isolated cystinuria type I, and PREPL. Deletion of other genes–e.g., PPM1B C2ORF34, and possibly others, result in a more severe and slightly different phenotypic expressions of contiguous gene syndromes.
Synonym Adjacent gene syndrome