Evidence map›Paper›PMID 27924152›Full record

ArticleMolecular cytogenetics2016

Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report.

Bárbara Marques, Cristina Ferreira, Filomena Brito, Sónia Pedro, Cristina Alves, Teresa Lourenço, Marta Amorim, Hildeberto Correia

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular cytogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Bárbara MarquesUnidade de Citogenética, Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, I.P, Avenida Padre Cruz, 1649-016 Lisboa, Portugal.
Cristina FerreiraUnidade de Citogenética, Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, I.P, Avenida Padre Cruz, 1649-016 Lisboa, Portugal.
Filomena BritoUnidade de Citogenética, Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, I.P, Avenida Padre Cruz, 1649-016 Lisboa, Portugal.
Sónia PedroUnidade de Citogenética, Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, I.P, Avenida Padre Cruz, 1649-016 Lisboa, Portugal.
Cristina AlvesUnidade de Citogenética, Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, I.P, Avenida Padre Cruz, 1649-016 Lisboa, Portugal.
Teresa LourençoServiço de Genética Médica, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Rua Jacinta Marto, 1169-045 Lisboa, Portugal.
Marta AmorimServiço de Genética Médica, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Rua Jacinta Marto, 1169-045 Lisboa, Portugal.
Hildeberto CorreiaUnidade de Citogenética, Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, I.P, Avenida Padre Cruz, 1649-016 Lisboa, Portugal.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAnalphoid supernumerary marker chromosomes (aSMC) constitute one of the smallest groups of SMC, and are characterized by a centromeric constriction but no detectable alpha-satellite DNA. These marker chromosomes cannot be properly identified by conventional banding techniques alone, and molecular cytogenetic methods are necessary for a detailed characterization. Analphoid SMC derived from chromosome 7 are extremely rare, with only five cases reported so far. CASE PRESENTATION: In this work we report an aSMC involving the terminal long arm of chromosome 7 in a 10-year-old boy with multiple dysmorphic features and severe development delay. Cytogenetic analysis revealed a mosaic karyotype with the presence of an extra SMC,

conclusionsWe report the first patient with an aSMC(7) derived from the terminal 7q region who has been molecularly and clinically full characterized. The use of SNParray in the characterization of SMC reveals to be a powerful tool, giving information not only about copy number variation but also about loss-of-heterozygosity and parental origin. We conclude that an integrated genome-wide copy number variation analysis, if possible associated to FISH and gene expression studies, could facilitate in the future the difficult task of establishing accurate genotype-phenotype correlations and help to improve genetic counselling.

Indexed as

7q duplicationAnalphoid supernumerary marker chromosomeChromosome 7NeocentromerePartial 7q tetrasomy

Identifiers

PMID27924152
PMCPMC5123314

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