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

Autor: R, Scheuvens, M, Begemann, L, Soellner, D, Meschede, G, Raabe-Meyer, M, Elbracht, R, Schubert, T, Eggermann

Publikováno v: Clinical genetics. 92(1)

Maternal uniparental disomy of chromosome 16 [upd(16)mat] as the result of trisomy 16 is one of the most frequently reported uniparental disomies in humans, but a consistent phenotype is not obvious. Particularly, it is difficult to discriminate betw

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b2bcfe72d2d628f677aa3e398a166e28
https://pubmed.ncbi.nlm.nih.gov/28032339

Contents Vol. 128, 2010

Autor: Egbert Bakker, Mariela Nieves, Marta D. Mudry, S.M. Gollin, Cristina Rossetti, Maisa Yoshimoto, Satz Mengensatzproduktion, André Eggen, Giovanna Fusco, Cathy A.J. Bosch, B.J. Henson, Thomas Liehr, Druck Reinhardt Druck Basel, Claudia A. L. Ruivenkamp, Francesco Filippini, V. Sarri, Vladimir A. Trifonov, P.A.S. Nuin, C. Campanile, M. Mühlmann, Pier Giorgio Cionini, Monika Ziegler, M.H. Breuning, Gaia Andreozzi, Marilena Ceccarelli, Paul S. Thorner, G. Raabe-Meyer, M. Verschuren, Maria Strazzullo, Maurizio D'Esposito, Maria Zielenska, E. Polizzi, Kerstin Hansson, Lino Ferrara, G.P. Di Meo, P.V. Dementyeva, Alexander S. Graphodatsky, Olga Ludkovski, Anastasia I. Kulemzina, Jeremy A. Squire, Domenico Vecchio, Nadezda Kosyakova, Angela Perucatti, A. van Haeringen, Jeff W. Martin, Anja Weise, A.C.J. Gijsbers, Giuseppe Campanile

Publikováno v: Cytogenetic and Genome Research. 128:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a263a8354a1e31192cba784dc362c7c8
https://doi.org/10.1159/000314654

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Autor: Jedraszak G; Constitutional Genetics Laboratory, University Hospital of Amiens, Amiens, France.; UR4666, University of Picardy Jules Verne, Amiens, France., Jobic F; Clinical Genetics Unit, University Hospital of Amiens, Amiens, France., Receveur A; Constitutional Genetics Laboratory, University Hospital of Amiens, Amiens, France., Bilan F; Genetics Laboratory, University Hospital of Poitiers, Poitiers, France., Gilbert-Dussardier B; Medical Genetics Unit, University Hospital of Poitiers, Poitiers, France., Tiffany B; Medical Genetics Unit, University Hospital of Marseille, Marseille, France., Missirian C; Cytogenetics Laboratory, University Hospital of Marseille, Marseille, France., Willems M; Medical Genetics Laboratory, University Hospital of Montpellier, Montpellier, France., Odent S; Medical Genetics Unit, University Hospital of Rennes, Rennes, France., Lucas J; Genetics Laboratory, University Hospital of Rennes, Rennes, France., Dubourg C; Molecular & Genomic Institute, Rennes, France., Schaefer E; Clinical Genetics Unit, University Hospital of Strasbourg, Strasbourg, France., Scheidecker S; Medical Genetics Laboratory & INSERM U1112, Strasbourg, France., Lespinasse J; Clinical Genetics Unit, Hospital of Chambéry, Chambéry, France., Goldenberg A; Clinical Genetics Unit, University Hospital of Rouen, Rouen, France., Guerrot AM; Clinical Genetics Unit, University Hospital of Rouen, Rouen, France., Joly-Helas G; Cytogenetics Laboratory, University Hospital of Rouen, Rouen, France., Chambon P; Cytogenetics Laboratory, University Hospital of Rouen, Rouen, France., Le Caignec C; Medical Gentics Unit, University Hospital of Toulouse, Toulouse, France., David A; Clinical Genetics Unit, University Hospital of Nantes, Nantes, France., Coutton C; Cytogenetics Laboratory, University Hospital of Grenoble & INSERM U1209 Institute for Advanced Biosciences, University of Grenoble Alpes, Grenoble, France., Satre V; Cytogenetics Laboratory, University Hospital of Grenoble & INSERM U1209 Institute for Advanced Biosciences, University of Grenoble Alpes, Grenoble, France., Vieville G; Cytogenetics Laboratory, University Hospital of Grenoble, Grenoble, France., Amblard F; Cytogenetics Laboratory, University Hospital of Grenoble, Grenoble, France., Harbuz R; Cytogenetics Laboratory, University Hospital of Grenoble, Grenoble, France., Sanlaville D; Cytogenetics Laboratory, University Hospital of Lyon, Bron, France., Till M; Cytogenetics Laboratory, University Hospital of Lyon, Bron, France., Vincent-Delorme C; Catherine Vincent Delorme, Clinical Genetics Unit Guy Fontaine, University Hospital of Lille, Lille, France., Colson C; Catherine Vincent Delorme, Clinical Genetics Unit Guy Fontaine, University Hospital of Lille, Lille, France., Andrieux J; Molecular Genetics Institute, University hospital of Lille, Lille, France., Naudion S; Clinical Genetics Unit, University Hospital of Bordeaux, Bordeaux, France., Toutain J; Clinical Genetics Unit, University Hospital of Bordeaux, Bordeaux, France., Rooryck C; Medical Genetics Laboratory, University Hospital of Bordeaux, Bordeaux, France., de Fréminville B; Genetics Laboratory, University Hospital of Saint-Etienne, Saint-Etienne, France., Prieur F; Medical Genetics Unit, University Hospital of Saint-Etienne, Saint Etienne, France., Daire VC; Medical Genetics Federation, Necker-Children's Hospital, Paris, France., Amram D; Clinicial Genetics Unit, University Hospital of Creteil, Creteil, France., Kleinfinger P; Cerba Laboratory, Saint-Ouen, France., Raabe-Meyer G; Praxis für Humangenetik Dr. Schulze, Hannover, Germany., Courage C; Folkhälsan Research Center, Helsinki, Finland., Lemke J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Stefanou EG; Cytogenetics Unit, Laboratory of Medical Genetics, University General Hospital of Patras, Patras, Greece., Loretta T; Developmental Assessment Unit, National and Kapodistrian University of Athens, Athens, Greece., Emmanouil M; ATG Genetic Center, Athens, Greece., Tzeli SK; Department of Medical Genetics, National and Kapodistrian University of Athens, Athens, Greece., Sodowska H; Niepubliczny Zakład Opieki Zdrowotne 'Genom', Ruda Slaska, Poland., Anderson J; Cytogenetics Department, Sullivan and Nicolaides Pathology, Taringa, Queensland, Australia., Nandini A; Department of Cytogenetics, Royal Brisbane and Women's Hospital, Brisbane, Australia., Copin H; Constitutional Genetics Laboratory, University Hospital of Amiens, Amiens, France., Garçon L; Constitutional Genetics Laboratory, University Hospital of Amiens, Amiens, France.; UR4666, University of Picardy Jules Verne, Amiens, France., Liehr T; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany., Morin G; Clinical Genetics Unit, University Hospital of Amiens, Amiens, France.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Apr; Vol. 194 (4), pp. e63476. Date of Electronic Publication: 2023 Nov 16.

Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe.

Autor: Stumm M; Zentrum für Pränataldiagnostik und Humangenetik, Berlin, Germany., Entezami M, Haug K, Blank C, Wüstemann M, Schulze B, Raabe-Meyer G, Hempel M, Schelling M, Ostermayer E, Langer-Freitag S, Burkhardt T, Zimmermann R, Schleicher T, Weil B, Schöck U, Smerdka P, Grömminger S, Kumar Y, Hofmann W

Publikováno v: Prenatal diagnosis [Prenat Diagn] 2014 Feb; Vol. 34 (2), pp. 185-91. Date of Electronic Publication: 2013 Dec 12.

First case of a neocentromere formation in an otherwise normal chromosome 7.

Autor: Liehr T; Jena University Hospital, Institute of Human Genetics and Anthropology, Jena, Germany. i8lith@mti.uni-jena.de, Kosyakova N, Weise A, Ziegler M, Raabe-Meyer G

Publikováno v: Cytogenetic and genome research [Cytogenet Genome Res] 2010 Jun; Vol. 128 (4), pp. 189-91. Date of Electronic Publication: 2009 Dec 23.