Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances
Research output: Contribution to journal › Journal article › Research › peer-review
The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader-Willi/Angelman, Miller-Dieker, Smith-Magenis, 1p-, Williams), the reciprocal microduplication syndromes and imbalance at the subtelomere regions of chromosomes in a routine prenatal setting.
| Original language | English |
|---|---|
| Journal | Prenatal Diagnosis |
| Volume | 30 |
| Issue number | 10 |
| Pages (from-to) | 995-9 |
| Number of pages | 5 |
| ISSN | 0197-3851 |
| DOIs | |
| Publication status | Published - 1 Oct 2010 |
ID: 34132408