Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself

Author:

Scheuvens R.1,Begemann M.1,Soellner L.1,Meschede D.2,Raabe-Meyer G.3,Elbracht M.1,Schubert R.2,Eggermann T.1ORCID

Affiliation:

1. Institute of Human Genetics; University Hospital, Technical University (RWTH) Aachen; Aachen Germany

2. Praxis für Humangenetik; Cologne Germany

3. Praxis für Humangenetik; Hannover Germany

Funder

Bundesministerium für Bildung und Forschung

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference20 articles.

1. Human aneuploidy: incidence, origin, and etiology;Hassold;Environ Mol Mutagen,1996

2. An audit of trisomy 16 in man;Wolstenholme;Prenat Diagn,1995

3. Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16;Hassold;Am J Hum Genet,1995

4. Uniparental disomy for chromosome 16 in humans;Kalousek;Am J Hum Genet,1993

5. Recent advances in imprinting disorders;Soellner;Clin Genet,2017

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