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Complex Small Supernumerary Marker Chromosome Leading to Partial 4q/21q Duplications: Clinical Implication and Review of the Literature

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Autor(es):
Bellucco, Fernanda T. [1] ; Fock, Rodrigo A. [1] ; de Oliveira-Junior, Helio R. [1] ; Perez, Ana B. [1] ; Melaragno, Maria I. [1]
Número total de Autores: 5
Afiliação do(s) autor(es):
[1] Univ Fed Sao Paulo, Dept Morphol & Genet, Rua Botucatu 740, BR-04023900 Sao Paulo, SP - Brazil
Número total de Afiliações: 1
Tipo de documento: Artigo de Revisão
Fonte: Cytogenetic and Genome Research; v. 156, n. 4, p. 173-178, 2018.
Citações Web of Science: 0
Resumo

Complex small marker chromosomes (sSMCs) consist of chromosomal material derived from more than 1 chromosome. Complex sSMCs derived from chromosomes 4 and 21 are rare, with only 7 cases reported. Here, we describe a patient who presented with a complex sSMC derived from a maternal translocation between chromosomes 4 and 21, which was revealed by G-banding, MLPA, and array techniques. The marker chromosome der(21)t(4; 21)(q32.1; q21.2) mat is composed of a 25.6-Mb 21pterq21.2 duplication and a 32.1-Mb 4q32.1q35.2 duplication. In comparison to patients with sSMCs derived from chromosomes 4 and 21, our patient showed a similar phenotype with neuropsychomotor developmental delay and facial dysmorphism as the most important finding, being a composition of the findings found in pure 4q and 21q duplications. The wide range of phenotypes associated with sSMCs emphasizes the importance of detailed cytogenomic analyses for an accurate diagnosis, prognosis, and genetic counseling. (C) 2018 S. Karger AG, Basel (AU)

Processo FAPESP: 14/11572-8 - Rearranjos cromossômicos e sua importância na etiologia das doenças genéticas: investigação citogenômica e molecular
Beneficiário:Maria Isabel de Souza Aranha Melaragno
Linha de fomento: Auxílio à Pesquisa - Temático