The 6p subtelomere deletion syndrome

Abstract

Submicroscopic deletion of the 6p25 subtelomere has recently been recognized as a clinically identifiable syndrome. To date, more than 30 cases have been described with variable cytogenetically visible 6p deletions. Terminal 6p deletions result in a clinically distinguishable phenotype. The focus of this review is the phenotype associated with isolated terminal deletions of 6p25, and specifically isolated submiscroscopic subtelomere deletions. A distinct phenotype has emerged consisting of developmental delay/mental retardation, language impairment, hearing loss, and ophthalmologic, cardiac, and craniofacial abnormalities. These features demonstrate considerable clinical overlap with the Ritscher-Schinzel (or cranio-cerebello-cardiac (3C)) syndrome (OMIM #220210). Isolated submiscroscopic 6p25 subtelomere terminal deletion has been reported in 11 individuals, two of whom are siblings. Cytogentic and molecular mapping of the 6p25 deletion boundary has been reported in 8 of these 10 unrelated individuals with isolated submiscroscopic subtelomere deletion. This analysis has revealed substantial phenotypic overlap between individuals with submicroscopic terminal 6p deletions and those with large, cytogenetically visible deletions of the region suggesting that the critical genes contributing to the main clinical and developmental features lie in the terminal region of 6p25.