**5. Conclusions**

We outline that array-CGH should be used as a first-tier tool in the diagnostic workup of patients presenting with a phenotype resembling the 22q11.2DS. This technique allows for identifying CNVs, whose altered gene content should be carefully examined to understand the mechanisms leading to 22q11.2DS phenocopies. Further analysis, such as whole exome sequencing and methylome analyses, could be considered in DGS patients in the case of normal array-CGH.

**Supplementary Materials:** The following supporting information can be downloaded at https: //www.mdpi.com/article/10.3390/jcm11072025/s1, Table S1: Gene content in the CNVs; Figure S1: Auxological findings of height expressed in standard deviations.

**Author Contributions:** Conceptualization, R.C.; Methodology, A.L., V.B. and A.V.; Software, V.B. and A.V.; Validation, A.L., V.B. and A.V.; Formal Analysis, A.M.Q.A., A.L., V.B. and A.V.; Investigation, A.M.Q.A., A.L., V.B., G.C., G.I.B., A.V. and R.C.; Data Curation, A.M.Q.A., A.L., V.B., G.C., G.I.B., A.V. and R.C.; Writing—Original Draft Preparation, A.M.Q.A., A.L. and V.B.; Writing—Review and Editing, A.L., V.B., A.V. and R.C.; Visualization, R.C. and A.V.; Supervision, R.C. and A.V. All authors have read and agreed to the published version of the manuscript.

**Funding:** This research received no external funding.

**Institutional Review Board Statement:** Ethical review and approval were waived by our institutional review board because of the retrospective chart review study design.

**Informed Consent Statement:** Informed consent was obtained from all subjects involved in the study. The study was conducted in accordance with the Declaration of Helsinki.

**Data Availability Statement:** The data presented in this study are available on reasonable request from the corresponding author.

**Conflicts of Interest:** The authors declare no conflict of interest.

## **References**

