6q27 subtelomeric deletions: Is there a specific phenotype?

We read with great interest the report of Mosca et al. [2010] in theMay issue of the Journal, describing a patient with a 5.65Mb deletion on chromosome 6q27 (ranging from 165.24Mb to the 6q telomere at 170.89 Mb)associated with intellectual disability and a Ehlers–Danlos (EDS) like phenotype. We would like to further delineate the phenotypic spectrum of these rearrangements by reporting two additional patients with this chromosomal abnormality. Patient 1 is a 17-year-old girl, with a history of moderate psychomotor retardation, hypotonia and a sacral lipoma, that was surgically removed at age 5. She had mild dysmorphic features (downslanting, narrow palpebral fissures, a broad nasal root, malar hypoplasia, prominent ears, and thin vermillion of the upper lip). Brain MRI performed at age 16 as part of the investigations for the intellectual disability, showed an atypical cerebellar cyst, and evidence of periventricular nodular heterotopia. She has never had seizures.