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

Alessandra Di Nora; Germana Lena; Andrea Giugno; Alessia Di Mari; Pierluigi Smilari; Carmelo Minardi; Piero Pavone

doi:10.1055/s-0041-1729546

Global Medical Genetics, Inhaltsverzeichnis

CC BY 4.0 · Glob Med Genet 2021; 08(03): 123-128
DOI: 10.1055/s-0041-1729546

Case Report

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

Alessandra Di Nora

¹Department of Clinical and Experimental Medicine, Postgraduate Training Program in Pediatrics, University of Catania, Catania, Italy

,

Germana Lena

¹Department of Clinical and Experimental Medicine, Postgraduate Training Program in Pediatrics, University of Catania, Catania, Italy

,

Andrea Giugno

¹Department of Clinical and Experimental Medicine, Postgraduate Training Program in Pediatrics, University of Catania, Catania, Italy

,

Alessia Di Mari

²Department of Radiology, Postgraduate Training Program in Radiology, University of Catania, Catania, Italy

,

Pierluigi Smilari

³Department of Pediatric and Pediatric Neurology, University of Catania, Catania, Italy

,

Carmelo Minardi

⁴Department of Anaesthesia and Intensive Care, University Hospital “G. Rodolico” of Catania, Catania, Italy

,

Piero Pavone

³Department of Pediatric and Pediatric Neurology, University of Catania, Catania, Italy

› Institutsangaben

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

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Referenzen

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