Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances - Research - Rigshospitalet

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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

DOI

https://doi.org/10.1002/pd.2604
Final published version

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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 language	English
Journal	Prenatal Diagnosis
Volume	30
Issue number	10
Pages (from-to)	995-9
Number of pages	5
ISSN	0197-3851
DOIs	https://doi.org/10.1002/pd.2604
Publication status	Published - 1 Oct 2010

ID: 32201347