Molecular cytogenetic analysis of a de novo 5q31q33 deletion associated multiple congenital anomalies: Case report

Interstitial deletions are relatively rare chromosomal anomalies that usual ly arise de novo, The data describing the phenotype associated with interst itial deletions of 5q are very limited, We describe the first case of multi ple fetal anomalies, diagnosed on prenatal sonographic examination, associa ted with a deletion at 5q31q33. Sonographic examination at 23 weeks' gestat ion demonstrated growth parameters consistent with 20 weeks' gestation; a 7 -mm nuchal fold; a dilated loop of bowel adjacent to the stomach suggestive of duodenal atresia; clubbing of the left foot; a narrow aorta; suspected ventricular septal defect; and placental thickening, The patient delivered a severely growth-restricted fetus and enlarged placenta at 30 weeks' gesta tion, The infant died neonatally, (C) 1999 Wiley-Liss, Inc.