A 20-year-old man with multiple anomalies caused by a de novo duplication of the long arm of chromosome 1 is presented. The patient suffers from severe mental retardation, epilepsy, bronchial stenosis, and minor anomalies (e.g., hirsutism, midface dysplasia, and beaked nose). A G-banding analysis of the patient's chromosomes showed additional segments in chromosome 1. Fluorescent in situ hybridisation analysis with a chromosome 1 painting probe showed that the extra material originated from chromosome 1. Further analysis with cosmid probes demonstrated that the region involving chromosome bands 1q31 to q41 is present in a tandem duplication.
An infant with thoracic spina bifida, myelomeningocele and hydrocephalus was found to have intrathoracic gastric duplication and noncontiguous tubular duplication along two-thirds of the small bowel. The myelomeningocele was closed and the hydrocephalus relieved with a shunt. The intrathoracic duplication was excised in toto and the intra-abdominal malformation successfully treated by stripping the entire mucosal tube from within the duplication.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.