METHODS

The study sample includes 72 patients, of whom 43 have either four major criteria for CHARGE (coloboma, choanal atresia, characteristic ear abnormality, and cranial nerve dysfunction) or three major and three minor criteria (genital hypoplasia, developmental delay, cardiovascular malformations, growth deficiency, orofacial cleft, tracheo-oesopageal fistula, and characteristic face) as described by Blake et al. 10 This set of patients was used for all FISH analyses, DHPLC, and candidate gene sequencing. An additional 29 patients with clinical diagnosis of CHARGE, established by one of several experienced dysmorphologists, 7 were also included in this study. The spectrum of defects in all these patients has been reported previously. 7 The phenotype of the child with the balanced translocation has been described by Martin et al 11 and includes bilateral choanal atresia, absence of semicircular canals, cranial nerve dysfunction, genital hypoplasia, developmental delay, and growth retardation. A blood sample was obtained from this patient and lymphoblastoid cell line was established. The research protocol was reviewed and approved by the Baylor College of Medicine Institutional Review Board.