A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report

here we report on a girl with mental retardation and generalized hypotonia. A genome-wide screen for copy number variations (CNVs) using single nucleotide polymorphisms (SNPs) array revealed a 7.5 Mb interstitial deletion of chromosome region 2q24.1q24.2 encompassing 59 genes, which was absent in parents. The gene content analysis of the deleted region and review of the literature revealed the presence of some genes that may be indicated as good candidate in generating the main clinical features of the patient.the present case represents a further patient described in the literature with an interstitial deletion of chromosome 2q24.1q24.2. Our patient shares some clinical features with the previously reported patients carriers of overlapping 2q24 deletion. Although more cases are needed to delineate the full-blown phenotype of 2q24.1q24.2 deletion syndrome, published data and present observation suggest that hemizygosity of this region results in a clinically recognizable phenotype. Considering these clinical and cytogenetic similarities, we suggest the existence of an emerging syndrome associated to 2q24.1q24.2 region.Conventional cytogenetic analysis have identified more than 100 individuals with constitutional deletion within 2q. In particular, over 70 patients with a terminal deletion and over 30 with an interstitial deletion have already been reported [1,2]. Most of the examined patients presented a mental retardation varying between severe and profound, hypotonia and dysmorphic features. Phenotype variations are likely to be due to differences in the size and location of the segmental aneuploidy. The most frequent interstitial deletion involves the cytogenetic bands 2q31q33 and corresponds to a specific phenotype [3,4]. Only few cases showed overlapping deletions, although of quite different extensions, and most of the reported cases with 2q interstitial deletion have been detected with standard cytogenetic techniques showing poor definition of breakpoints. Thu