Neonatal diagnosis of 49, XXXXY syndrome

Background: 49, XXXXY syndrome is a rare sex chromosomal disorder, occurring in 1 per 85,000-100,000 male births. The classical phenotype is ambiguous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. Case: A two month-old boy with intrauterine growth restriction (IUGR) and low birth weight, facial dysmorphism, clinodactyly in feet, microphallus, and right undescendent testis were seen by neonatologist. Chromosomal studies via techniques of GTG-banding showed the constitution to be 49,XXXXY in all cells. He was visited by the pediatric cardiologist for congenital heart disease. No obvious malformation and congenital heart disease were seen. Conclusion: In the case, the main presentation of IUGR and low birth weight, clinodactyly with facial dysmorphism and genital abnormalities led to a suspicion of a sex chromosome aneuploidy which was subsequently confirmed by chromosomal analysis.