Characterization of a rare analphoid supernumerary marker chromosome in mosaic

Marques, B.; Alves, C.; Ferreira, C.; Correia, H.; Brito, F.; Pedro, S.; Amorim, M.

Publication

Characterization of a rare analphoid supernumerary marker chromosome in mosaic

2015-07-01Conference object

dc.contributor.author	Marques, B.
dc.contributor.author	Alves, C.
dc.contributor.author	Ferreira, C.
dc.contributor.author	Correia, H.
dc.contributor.author	Brito, F.
dc.contributor.author	Pedro, S.
dc.contributor.author	Amorim, M.
dc.date.accessioned	2016-03-04T19:18:46Z
dc.date.available	2016-03-04T19:18:46Z
dc.date.issued	2015-07-01
dc.description	Abstract publicado em: Chromosome Research. 2015;23(Suppl 1):67-8. doi:10.1007/s10577-015-9476-6	pt_PT
dc.description.abstract	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.	pt_PT
dc.identifier.uri	http://hdl.handle.net/10400.18/3680
dc.language.iso	eng	pt_PT
dc.peerreviewed	yes	pt_PT
dc.relation.publisherversion	http://link.springer.com/article/10.1007%2Fs10577-015-9476-6	pt_PT
dc.subject	Marker Chromosome	pt_PT
dc.subject	Analphoid Supernumerary	pt_PT
dc.subject	Mosaic	pt_PT
dc.subject	Doenças Genéticas	pt_PT
dc.title	Characterization of a rare analphoid supernumerary marker chromosome in mosaic	pt_PT
dc.type	conference object
dspace.entity.type	Publication
oaire.citation.conferencePlace	Strasbourg, França	pt_PT
oaire.citation.title	10th European Cytogenetics Conference, 4-7 July 2015	pt_PT
rcaap.rights	openAccess	pt_PT
rcaap.type	conferenceObject	pt_PT