Clinical comparison between terminal and interstitial 4q deletion in two unrelated children

Abstract

Background. The term “4q deletion syndrome” is defined to include two different regions: an interstitial sequence deleted from the centromere to 4q31 and a terminal deletion from 4q31 to 4qter. Objective. To compare clinical similarities and differences between two unrelated children of the same age observed during the same time period by the same Center, one presenting with a 4q interstitial deletion, the other with a terminal 4q deletion. The clinical manifestations were compared. Cases Presentation. Clinical manifestations observed in two children from the infancy to the age of 7 years included: craniofacial features, pre- and postnatal growth failure, and speech and developmental delay. Case 1 showed a terminal 4q deletion of about 329.6 Kb extending from 164.703.186 to 165.032.803 nt, Case 2 displayed an interstitial 4q deletion 600.3 Kb long spanning from 71.655.407 to 78.016.622 nt. Results. Growth retardation, craniofacial features, mild developmental delay and notable speech delay. were reported in both the probands. Precocious crowded dentition was observed in Case 1 and an accessory spleen in Case 2. Conclusion. Patients with 4q deletion syndrome although sharing main features, exhibited varying clinical manifestations depending on the area and location of the deletion. Similarity and diversity reported for the probands are analyzed. An extensive review of the 4q deletion syndrome is reported.