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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases

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Author(s):
Sgardioli, Ilaria C. ; Copelli, Matheus de Mello ; Monteiro, Fabiola P. ; dos Santos, Ana P. ; Mendes, Elaine Lustosa ; Vieira, Tarsis Paiva ; Gil-da-Silva-Lopes, Vera L.
Total Authors: 7
Document type: Journal article
Source: MOLECULAR SYNDROMOLOGY; v. 8, n. 5, p. 244-252, 2017.
Web of Science Citations: 2
Abstract

In the last few decades, different methods for the detection of genomic imbalances, such as the microdeletion syndromes, were developed. The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome and presents wide clinical heterogeneity. The aim of this study was to describe 4 unusual cases of genomic imbalances found in individuals with suspected microdeletion syndromes. Different methods were necessary to complete the diagnosis and to obtain information for genetic counseling. The study was retrospective and descriptive. From August 2014 to December 2015, 39 individuals were assessed using FISH and/or MLPA; in 15 cases, chromosomal microarray (CMA) analysis was carried out. Of 39 registered individuals, we found deletions in the 22q11.2 region in 10 individuals (8 individuals with 22q11.2DS and 2 individuals presenting with atypical deletions in the 22q11.2 region: 1 distal deletion and 1 central deletion). In one case with a typical 22q11.2 deletion, a familial balanced translocation was detected. In another case without a 22q11.2 deletion, a 6p duplication concomitant with a 9p deletion was detected by CMA. Clinical data are reported and diagnostic investigations are discussed. Essential aspects for the understanding of different diagnostic techniques of genomic imbalances are considered, and the 4 cases described underline the complexity and the difficulties involved in the diagnostic process. The approach is informative for clinical practice and may be applied in other contexts of genomic imbalance investigation in microdeletion syndromes. (C) 2017 S. Karger AG, Basel (AU)

FAPESP's process: 12/51799-6 - Consolidation of a multicentric strategy in genetics for database and diagnostic on orofacial clefts
Grantee:Vera Lúcia Gil da Silva Lopes
Support Opportunities: Research Grants - Research in Public Policies for the National Health Care System (PP-SUS)