Identification of an X-linked deletion syndrome through comparative genomic hybridization microarray.
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 Xq21 [corrected] micro-deletion as seen on comparative genomic hybridizations studies. A review of the genes contained in this region clearly explain his constellation of findings.
Rush
Eric T
ET
Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.
Schaefer
G Bradley
GB
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000293:Adolescent; D001921:Brain / Q000473:pathology; D055028:Comparative Genomic Hybridization; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics*; D051275:Glucose Transporter Type 4 / Q000235:genetics; D034381:Hearing Loss / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics*
D017630:Connexins; D051275:Glucose Transporter Type 4; D000072259:Connexin 26