Title |
Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis
|
---|---|
Published in |
Molecular Cytogenetics, January 2011
|
DOI | 10.1186/1755-8166-4-2 |
Pubmed ID | |
Authors |
Diane Van Opstal, Marjan Boter, Petra Noomen, Malgorzata Srebniak, Guus Hamers, Robert-Jan H Galjaard |
Abstract |
Small supernumerary marker chromosomes (sSMC) are extra structurally abnormal chromosomes that cannot be unambiguously identified with conventional chromosome banding techniques. These marker chromosomes may cause an abnormal phenotype or be harmless depending on different factors such as genetic content, chromosomal origin and level of mosaicism. When a sSMC is found during prenatal diagnosis, the main question is whether the sSMC contains euchromatin since in most cases this will lead to phenotypic abnormalities. We present the use of Multiplex Ligation Dependent probe Amplification (MLPA) for rapid distinction between non-euchromatic and euchromatic sSMC. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
India | 1 | 13% |
Unknown | 7 | 88% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 2 | 25% |
Librarian | 1 | 13% |
Other | 1 | 13% |
Student > Ph. D. Student | 1 | 13% |
Student > Master | 1 | 13% |
Other | 1 | 13% |
Unknown | 1 | 13% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 4 | 50% |
Business, Management and Accounting | 1 | 13% |
Medicine and Dentistry | 1 | 13% |
Unknown | 2 | 25% |