| Title |
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes
|
|---|---|
| Published in |
Molecular Cytogenetics, October 2013
|
| DOI | 10.1186/1755-8166-6-45 |
| Pubmed ID | |
| Authors |
Chiara Castronovo, Emanuele Valtorta, Milena Crippa, Sara Tedoldi, Lorenza Romitti, Maria Cristina Amione, Silvana Guerneri, Daniela Rusconi, Lucia Ballarati, Donatella Milani, Enrico Grosso, Pietro Cavalli, Daniela Giardino, Maria Teresa Bonati, Lidia Larizza, Palma Finelli |
| Abstract |
Small supernumerary marker chromosomes (sSMCs) are additional, structurally abnormal chromosomes, generally smaller than chromosome 20 of the same metaphase spread. Due to their small size, they are difficult to characterize by conventional cytogenetics alone. In regard to their clinical effects, sSMCs are a heterogeneous group: in particular, sSMCs containing pericentromeric euchromatin are likely to be associated with abnormal outcomes, although exceptions have been reported. To improve characterization of the genetic content of sSMCs, several approaches might be applied based on different molecular and molecular-cytogenetic assays, e.g., fluorescent in situ hybridization (FISH), array-based comparative genomic hybridization (array CGH), and multiplex ligation-dependent probe amplification (MLPA).To provide a complementary tool for the characterization of sSMCs, we constructed and validated a new, FISH-based, pericentromeric Bacterial Artificial Chromosome (BAC) clone set that with a high resolution spans the most proximal euchromatic sequences of all human chromosome arms, excluding the acrocentric short arms. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 15 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 3 | 20% |
| Other | 2 | 13% |
| Student > Postgraduate | 2 | 13% |
| Student > Ph. D. Student | 2 | 13% |
| Librarian | 1 | 7% |
| Other | 4 | 27% |
| Unknown | 1 | 7% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 4 | 27% |
| Medicine and Dentistry | 4 | 27% |
| Agricultural and Biological Sciences | 3 | 20% |
| Neuroscience | 2 | 13% |
| Unknown | 2 | 13% |
Attention Score in Context
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#20,657,128
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Outputs of similar age from Molecular Cytogenetics
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