Identification of an X-linked deletion syndrome through comparative genomic hybridization microarray.

摘要

We present a single case of a young man with multiple congenital anomalies. For years, a unifying diagnosis could not be made. As his case developed, more clues came to light, but still no recognizable pattern could be identified. Ultimately, the combination of orofacial clefting, neurosensory hearing loss, choroideremia, and cognitive delays were shown to be due to an Xq28 micro-deletion as seen on comparative genomic hybridizations studies. A review of the genes contained in this region clearly explain his constellation of findings.