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Case Reports
. 2023 Jun 19;14(6):1292.
doi: 10.3390/genes14061292.

7p22.2 Microduplication: A Pathogenic CNV?

Alessia Bauleo  1 , Alberto Montesanto  2 , Vincenza Pace  1 , Francesco Guarasci  1 , Rosalbina Apa  1 , Rossella Brando  1 , Laura De Stefano  1 , Simona Sestito  3 , Daniela Concolino  3 , Elena Falcone  1
Affiliations
Case Reports

7p22.2 Microduplication: A Pathogenic CNV?

Alessia Bauleo et al. Genes (Basel). .

Abstract

Partial duplication of the short arm of chromosome 7 is a rare chromosome rearrangement. The phenotype spectrum associated with this rearrangement is extremely variable even if in the last decade the use of high-resolution microarray technology for the investigation of patients carrying this rearrangement allowed for the identification of the 7p22.1 sub-band causative of this phenotype and to recognize the corresponding 7p22.1 microduplication syndrome. We report two unrelated patients that carry a microduplication involving the 7.22.2 sub-band. Unlike 7p22.1 microduplication carriers, both patients only show a neurodevelopmental disorder without malformations. We better characterized the clinical pictures of these two patients providing insight into the clinical phenotype associated with the microduplication of the 7p22.2 sub-band and support for a possible role of this sub-band in the 7p22 microduplication syndrome.

Keywords: 7p22; 7p22.2 microduplication; CNV; SDK11; array-CGH. 7p22.1; minimal critical region; neurodevelopmental phenotypes.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Schematic representation of the microduplications restricted to the only 7p22.2 sub-band gathered from DECIPHER (medium blue), Cox and Butler [10] (light blue), and in this study (dark blue).
See this image and copyright information in PMC

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