What is it about?
There is a vast clinical heterogeneity in DGS, and several studies suggested also hetero‑geneity of clinical signs and phenotypic appearance to be related to ethnic diferences. Here, clinical characteristics of 72 patients with molecular diagnosed deletion del(22)(q11.2q11.2) derived from diferent countries from Europe, America, Africa, and Asia are summarized and compared.
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Why is it important?
Despite the heterogeneous nature of the sample analyzed, a number of clinical fndings could be highlighted to be useful for the clinical delineation of this DGS. Interestingly, diagnostic indicators may vary depending on the age at diagnosis. Finally, apparent diferences in DGS patients from diferent regions seem to be rather due to applied test systems than to real diferences in patients from diferent ethnicities.
Perspectives
Despite the heterogeneous nature of the sample analyzed, with respect to geographic distribution, a number of clinical fndings could be highlighted to be useful for the clinical delineation of this DGS.
PhD Luis Alberto Mendez-Rosado
CNGM
Read the Original
This page is a summary of: Clinical characterization of 72 patients with del(22)(q11.2q11.2) from different ethnic backgrounds, Egyptian Journal of Medical Human Genetics, December 2022, Springer Science + Business Media,
DOI: 10.1186/s43042-022-00374-x.
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