Gepubliceerd in:

01-02-2013

Testing for mosaicism in genetic entities - to swab or not to swab: in Cornelia de Lange syndrome no longer the question

Auteurs: S.A. Huisman, MD, E.J.W. Redeker, PhD, Prof. R.C.M. Hennekam, MD PhD

Gepubliceerd in: Tijdschrift voor Kindergeneeskunde | bijlage 1/2013

Extract

Frequently we see children who clinically present with a particular genetic entity, but analysis oflymphocyte DNA fails to confirm the suspicion. Cornelia de Lange syndrome (CdLS) is a malformation syndrome caused by mutations in 5 different genes, yet in 30-35% of patients no abnormality can be detected. We reasoned that mosaicism could be more commonly found if we tested for this specifically. Our main research question was how frequently NIPBL mutations could be found in buccal swabs in individuals negative for NIPBL mutations in lymphocytes? Additional questions concerned the efficiency of buccal swabs and best strategy for optimal mutation detection in CdLS. …

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