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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.
OriginalsprogEngelsk
TidsskriftPrenatal Diagnosis
Vol/bind30
Udgave nummer10
Sider (fra-til)995-9
Antal sider5
ISSN0197-3851
DOI
StatusUdgivet - 1 okt. 2010

ID: 32201347