Pure Interstitial 7q21.3-q 31.1 Duplication: A Rare Segmental Genomic Aneuploidy: Case Report and Review of Cases with Distal and Similar Segment Involved

Abstract

In children with developmental delay (DD) and neurologic impairment, diagnosis can be challenging because of the wide spectrum of causes. Since the last decade, the use of array comparative genomic hybridization (CGH) offered a great contribution to get a diagnosis in complex phenotypes. The chromosome 7 is subject of interest in medical genetics because of its frequent association with chromosome aberrations, rearrangements, and deletions involving clinical manifestations. We hereby reported a 3-year-old male child patient with severe neuro-DD, craniofacial dysmorphisms, and pulmonary stenosis, whose array CGH analysis disclosed a duplication of 14.4 Mb on chromosome 7 (7q21.3-7q31.1). By reviewing the current literature to date, we first reported on neurologic and dysmorphic anomalies related to this rearrangement which was not previously reported.

Keywords

7q21.3-q31.1 / array CGH / developmental delay / facial features / duplication

Ethical Approval

This study was conformed to the ethical guidelines of Declaration of Helsinki and approved by the ethic committee of the University Hospital “Policlinico Gaspare Rodolico” of Catania, Italy (nd: 1268 23/04/2017). Written informed consent was obtained from the patient for publication of this case report and any accompanying images.

Authors’ Contributions

Each author committed a substantial contribution to the conception or design of the work and to revise it critically for important intellectual content. In addition, each author approved thefinal version to be published. Conversely, each author agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Funding

None.

Conflict of Interest

None declared.

Acknowledgment

We thank the family for taking part in the investigation as well as giving consent for publication of the data and the images.

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