A Rare Case of 6q Deletion in a Neonate

Abstract

Terminal deletions of chromosome 6q are rare. The clinical findings are variable and most often include growth restriction, craniofacial anomalies, dysmorphism, microcephaly, cardiac anomalies, genitourinary anomalies, seizures, and tone abnormalities. Clinical manifestations are essentially due to differences in size and location of chromosomal deletions. This condition is usually associated with life-threatening morbidities often presented very early in neonatal period. Antenatal detailed ultrasound can help in identifying the condition which could then be confirmed by microarray after amniocentesis. Here, we report a case of 6q deletion associated with facial, skeletal, and brain anomalies in a male preterm neonate. Our case shows many features that have hitherto not been observed in the reported cases worldwide. By reporting this case we intend to expand the already known database of information on the phenotypic features associated with 6q deletion syndrome.