Terminal deletion(4)(q33) in a male infant

The deletion of 4q31→qter is associated with a recognizable “4q ‐ syndrome”. It has been proposed that the much rarer deletion 4q33→qter causes a milder phenotypic expression of the 4q ‐ syndrome. We present the second case, the first male, with the latter deletion and compare his clinical features to those of other 4q ‐ patients.