Chromosome 8q12.1-Q21.2 Deletion Syndrome

A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome.

Clinical Features

Vincent et al. (1994) analyzed a de novo 8q12.2-q21.2 deletion with the identification of a proposed 'new' contiguous gene syndrome consisting of the branchiootorenal (BOR) syndrome (113650), Duane syndrome (126800), hydrocephalus (600256), and aplasia of the trapezius muscle. This was the first reported localization of the genes responsible for Duane syndrome and for a dominant form of hydrocephalus. Linkage analysis of affected families consistently mapped the BOR gene to the region involved in the deletion. Using new algorithms, Vincent et al. (1994) constructed a YAC contig and used it to localize the breakpoint of another chromosomal rearrangement associated with the branchiootic syndrome to a 500-kb interval within the deletion.