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Mendeley readers
| Title |
Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report
|
|---|---|
| Published in |
Molecular Cytogenetics, August 2008
|
| DOI | 10.1186/1755-8166-1-19 |
| Pubmed ID | |
| Authors |
Sabita K Murthy, Ashok K Malhotra, Preenu S Jacob, Sehba Naveed, Eman EM Al-Rowaished, Sara Mani, Shabeer Padariyakam, R Pramathan, Ravi Nath, Mahmoud Taleb Al-Ali, Lihadh Al-Gazali |
| Abstract |
Small supernumerary marker chromosomes (sSMC) occur in 0.075% of unselected prenatal and in 0.044% of consecutively studied postnatal cases. Individuals with sSMC present with varying phenotype, ranging from normal to extremely mild or severe depending on the chromosomal region involved, the euchromatic content present and degree of mosaicism. Except for chromosomes 15 and 22, the number of reported cases of sSMC is extremely small to provide us with a good genotype-phenotype correlation. Analphoid sSMC are even rarer. To our knowledge only eight cases of analphoid inversion-duplication 3q sSMC are reported so far. |
Mendeley readers
The data shown below were compiled from readership statistics for 10 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 10 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 3 | 30% |
| Professor > Associate Professor | 2 | 20% |
| Student > Master | 2 | 20% |
| Student > Ph. D. Student | 1 | 10% |
| Other | 1 | 10% |
| Other | 1 | 10% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 4 | 40% |
| Agricultural and Biological Sciences | 3 | 30% |
| Environmental Science | 1 | 10% |
| Medicine and Dentistry | 1 | 10% |
| Unknown | 1 | 10% |