4q interstitial and terminal deletion: clinical features comparison in two unrelated children

Abstract

<abstract> <p>The 4q deletion syndrome defines a disorder, which may involve patients affected by either the deletion of the interstitial region from the centromere to 4q31 or by the deletion of the terminal region from 4q31 to 4qter. Here, we describe clinical phenotypes of two unrelated children of the same age followed at the same time, with case 1 presenting with 4q interstitial and case 2 with terminal 4q deletion, and compare them each other and with those reported in the literature. Both children showed complex, heterogeneous clinical manifestations, including craniofacial features, pre-postnatal growth failure, speech and developmental delay. In case 2, thyroid and cholesterol dysfunction were also found. Analyzing these data, clinical differences between interstitial and terminal 4q deletions are scanty and no significant phenotype differences were found between the 4q regions deleted as observed in the comparison of the two children and the related cases of the literature. The term 4q deletion syndrome - inclusive for both the interstitial and terminal 4q regions deleted - seems to be appropriate. To note, the dysfunction of cholesterol metabolism and thyroid presented by case 2 may be clinically worthwhile, whether confirmed by other observations.</p> </abstract>