A Case of Deletion 9p Syndrome

ABSTRACT

Since Alfi et al. first described the 9p deletion syndrome in 1973, approximately 40 cases with deletion of the chromosome 9p have been reported. These patients have multiple anomalies in craniofacies, limbs, and cardiovascular system, and mental retardation. In most cases, the breakpoint is located at the band 9p22 and the deletion is de novo. We report a neonate with 9p deletion syndrome diagnosed by clinical features and chromosomal analysis. He had multiple anomalies such as up slanting of palpebral fissures, epicanthal folds, arched eyebrows, anteverted nares, cleft palate, micrognathia, pectus excavatum, widely spaced nipples, cryptorchidism, atrial septal defect, tricuspid regurgitation (grade : III) and persistent muscle hypotonia.