Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances
Author:
Publisher
Wiley
Subject
Genetics (clinical),Obstetrics and Gynecology
Reference22 articles.
1. Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre;Ahn;BMC Med Genet,2007
2. Subtelomeric rearrangements and 22q11 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotype;Chen;Ultrasound Obstet Gynecol,2006
3. Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray;Coppinger;Prenat Diagn,2009
4. Prospective study of 22q11 deletion analysis in fetuses with excess nuchal translucency;Donnenfeld;Am J Obstet Gynecol,2006
5. Impact of a new national screening policy for Down's syndrome in Denmark; a population based cohort study;Ekelund;BMJ,2008
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