Deletion 4q21/4q22 syndrome: Two patients with de novo 4q21.3q23 and 4q13.2q23 deletions

Abstract

We report on 2 patients with de novo proximal interstitial deletions of the long arm of chromosomes 4: in one the deletion resulted in monosomy (4)(q21.3q23), in the other it produced monosomy (4)(q13.2q23). Review of 9 cases of deletions involving the 4q21/4q22 region reported previously detected a characteristic phenotype in 8 patients. This phenotype was present in our patients. We conclude that the deletion in the 4q21/4q22 region results in a specific clinical syndrome associated with central nervous system overgrowth that may be a result of anomalous imprinting in the 4q21/4q22 region.

A 4q21‐q22 deletion in a girl with severe growth retardation

“…Interstitial deletions, including chromosomal region 4q21‐q22, have been described in at least 20 cases (1–18). Although the deleted regions among patients were different, most of them showed growth and developmental retardation.…”

Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature

“…Interstitial deletions of the long arm of chromosome 4 have been reported in a number of individuals with variable clinical phenotypes [Mitchell et al, 1981; Beall et al, 1988; Abuelo et al, 1988; Fagan and Gill, 1989; Nowaczyk et al, 1997; Harada et al, 2002; Velinov et al, 2005; Jacquemont et al, 2006; Dobyns et al, 2008]. Patients with deletions involving 4q21 and 4q22 show several characteristic features such as facial dysmorphism, hypotonia, and small hands with short fingers associated with mild-severe growth and neurodevelopmental delays including ID.…”