Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/3680
Título: Characterization of a rare analphoid supernumerary marker chromosome in mosaic
Autor: Marques, B.
Alves, C.
Ferreira, C.
Correia, H.
Brito, F.
Pedro, S.
Amorim, M.
Palavras-chave: Marker Chromosome
Analphoid Supernumerary
Mosaic
Doenças Genéticas
Data: 1-Jul-2015
Resumo: Analphoid supernumerary marker chromosomes (SMCs) are a rare subclass of SMCs C-band-negative and devoid of alpha-satellite DNA. These marker chromosomes cannot be identified unambiguously by conventional banding techniques alone being necessary to apply molecular cytogenetic methods in favour of a detailed characterization. In this work we report an analphoid SMC involving the terminal long arm of chromosome 7, in 9 years-old boy with several dysmorphic features and severe development delay. Cytogenetic analysis revealed a mosaic karyotype with the presence of an extra SMC, de novo, in 20 % of lymphocytes and 73 % of fibroblast cells. FISH analysis with alpha-satellite probes for all chromosomes, whole chromosome painting probe for chromosome 7, and D7S427 and TelVysion 7q probes, allowed establishing the origin of the SMC as an analphoidmarker resulting of an invdup rearrangement of 7q36-qter region. Affimetrix CytoScan HD microarray analysis, redefined the SMC to arr[hg19] 7q35(143696249-159119707)×2~3, which correspond to a gain of 15.42 Mb and encloses 67 OMIM genes, 16 of which are associated to disease. This result, combined with detailed clinical description, will provide an important means for better genotype-phenotype correlation and a more suitable genetic counselling to the patient and his parents, despite the additional difficulty resulting from being a mosaic (expression varies in different tissues). Analphoid SMCs derived from chromosome 7 are very rare, with only three cases reported so far. With this case we hope contribute to a better understanding of this type of chromosome rearrangements which are difficult for genetic counselling.
Descrição: Abstract publicado em: Chromosome Research. 2015;23(Suppl 1):67-8. doi:10.1007/s10577-015-9476-6
Peer review: yes
URI: http://hdl.handle.net/10400.18/3680
Versão do Editor: http://link.springer.com/article/10.1007%2Fs10577-015-9476-6
Aparece nas colecções:DGH - Posters/abstracts em congressos internacionais

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Marques B et all. ECA2015.pdf49,14 kBAdobe PDFVer/Abrir
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