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Rigshospitalet - a part of Copenhagen University Hospital
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Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances

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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 languageEnglish
JournalPrenatal Diagnosis
Volume30
Issue number10
Pages (from-to)995-9
Number of pages5
ISSN0197-3851
DOIs
Publication statusPublished - 1 Oct 2010

ID: 32201347