Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome.

Autor:	Chehimi SN; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), São Paulo, SP, Brazil. Electronic address: nchsamar@gmail.com., Almeida VT; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., Nascimento AM; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), São Paulo, SP, Brazil., Zanardo ÉA; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., de Oliveira YG; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., Carvalho GFDS; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., Wolff BM; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., Montenegro MM; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., de Assunção NA; Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil; Departamento de Química, Instituto de Ciências Ambientais, Químicas e Farmacêuticas, Universidade Federal de São Paulo, Diadema, SP, Brazil., Kim CA; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), São Paulo, SP, Brazil., Kulikowski LD; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), São Paulo, SP, Brazil.
Jazyk:	angličtina
Zdroj:	Clinics (Sao Paulo, Brazil) [Clinics (Sao Paulo)] 2022 May 28; Vol. 77, pp. 100045. Date of Electronic Publication: 2022 May 28 (Print Publication: 2022).
DOI:	10.1016/j.clinsp.2022.100045
Abstrakt:	Objectives: Copy Number Variations (CNVs) in the human genome account for common populational variations but can also be responsible for genetic syndromes depending on the affected region. Although a deletion in 5p is responsible for a syndrome with highly recognizable phenotypical features, other chromosomal abnormalities might overlap phenotypes, especially considering that most studies in 5p use traditional cytogenetic techniques and not molecular techniques. Methods: The authors have investigated 29 patients with clinical suspicion of 5p- syndrome using Chromosomal Microarray (CMA), and have gathered information on previous tests, clinical signs, symptoms, and development of the patients. Results: The results showed 23 pure terminal deletions, one interstitial deletion, one deletion followed by a 3 Mb duplication in 5p, three cases of 5p deletion concomitant to duplications larger than 20 Mb in chromosomes 2, 9, and 18, and one 5p deletion with a chromosome Y deletion. CMA showed relevant CNVs not typically associated with 5p- that may have contributed to the final phenotype in these patients. Conclusions: The authors have identified three novel rearrangements between chromosomes 5 and 2 (Patient 27), 5 and 18 (Patient 11), and 5 and Y (Patient 22), with breakpoints and overlapped phenotypes that were not previously described. The authors also highlight the need for further molecular investigation using CMA, in different chromosomes beyond chromosome 5 (since those cases did not show only the typical deletion expected for the 5p- syndrome) to explain discordant chromosomal features and overlapped phenotypes to unravel the cause of the syndrome in atypical cases. Competing Interests: Conflicts of interest The authors declare no conflicts of interest. (Copyright © 2022 HCFMUSP. Published by Elsevier España, S.L.U. All rights reserved.)
Databáze:	MEDLINE
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