An Interstitial 4q31.21q31.22 microdeletion associated with developmental delay: Case report and literature review

Angeliki Maria Vlaikou, Emmanouil Manolakos, Dimitrios Noutsopoulos, Georgios Markopoulos, Thomas Liehr, Annalisa Vetro, Monika Ziegler, Anja Weise, Katharina Kreskowski, Ioannis Papoulidis, Loretta Thomaidis, Maria Syrrou

Research output: Contribution to journalArticlepeer-review


The 4q deletion syndrome phenotype consists of growth failure and developmental delay, minor craniofacial dysmorphism, digital anomalies, and cardiac and skeletal defects. We have identified an inversion (inv(1)(q25.2q31.1)) and an interstitial deletion in a boy with developmental delay using array-comparative genomic hybridization. This de novo deletion is located at 4q31.21q31.22 (145,963,820- 147,044,764), its size is 0.9-1.1 Mb, and it contains 7 genes (ABCE1, OTUD4, SMAD1, MMAA, C4orf51, ZNF827, and ANAPC10) as well as 5 retrotransposon-derived pseudogenes. Bioinformatic analysis revealed that while small copy number variations seem to have no impact on the phenotype, larger deletions or duplications in the deleted region are associated with developmental delay. Additionally, we found a higher coverage in transposable element sequences in the 4q31.21q31.22 region compared to that of the expected repeat density when regarding any random genome region. Transposable elements might have contributed to the reshaping of the genome architecture and, most importantly, we identified 3 L1PA family members in the breakpoint regions, suggesting their possible contribution in the mechanism underlying the appearance of this deletion. In conclusion, this is one of the smallest deletions reported associated with developmental delay, and we discuss the possible role of genomic features having an impact on the phenotype.

Original languageEnglish
Pages (from-to)227-238
Number of pages12
JournalCytogenetic and Genome Research
Issue number4
Publication statusPublished - 2014


  • 4q deletion syndrome
  • aCGH
  • Developmental delay
  • Dysmorphism
  • Transposable elements

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology


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