An Interstitial Deletion at 10q26.2q26.3

Ivan Y Iourov,Yuri B Yurov,Svetlana G Vorsanova,Oxana S Kurinnaia

doi:10.1155/2014/505832

Abstract

We present a case of an interstitial subtelomeric 10q26 deletion in a male child with moderate developmental delay and minor dysmorphic features. Using array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), we have detected an interstitial deletion at 10q26.2q26.3 encompassing a 5.8 Mb region and spanning 24 genes. Interestingly, losses of this chromosome 10 region have not been previously associated with a phenotype outcome. According to an in silico evaluation, we have suggested that PPP2R2D and BNIP3 losses are likely a cause of developmental delay in the index patient. Our data allow to speculating that haploinsufficiency of these two genes in 10q26.3, which is usually ignored in the context of chromosome 10q deletions, has a phenotypic effect.

Highlights

Subtelomeric chromosomal rearrangements are common in children with intellectual disability, developmental delays and/or dysmorphic features [1,2,3], deletions affecting subtelomere of chromosome 10 long arm, are rare [4]
We report a case of an interstitial 10q26 deletion in a male child presenting with a phenotypic outcome atypical for subtelomeric deletions at 10qter detected by array comparative genomic hybridization (CGH) and confirmed by fluorescence in situ hybridization (FISH)
Phenotypic outcomes of all the deletions at 10q26 addressed by array CGH have not been ever associated with haploinsufficiency of PPP2R2D and BNIP3 genes

Summary

Introduction

Subtelomeric chromosomal rearrangements are common in children with intellectual disability, developmental delays and/or dysmorphic features [1,2,3], deletions affecting subtelomere of chromosome 10 long arm, are rare [4]. This probably explains the small amount of such cases addressed by array comparative genomic hybridization (CGH) [4, 5] in contrast to the number of reports on phenotypic manifestations of chromosome 10q25q26/10q26qter loss analyzed using molecular cytogenetic techniques with a lower resolution [6,7,8].

Case Presentation and Methods

Discussion

Disclosure