Distal Monosomy 6p

Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.

Epidemiology

Pure deletions have been described in less than 10 patients.

Clinical description

Ocular abnormalities mainly affect the anterior chamber of the eye. Dysmorphic features include hypertelorism, broad forehead, down-slanting palpebral fissures, low-set ears, midface hypoplasia, and micrognathia. Intellectual deficit is variable in severity.

Etiology

Breakpoints are within 6p24-pter subtelomeric bands and microdeletions are detected by specific subtelomeric probes or comparative genomic hybridization (array-CGH).