Mosaikbefunde in der Microarray-Diagnostik bei prä- und postnatalen Untersuchungen
作者： Eveline Fiedler
DOI: 10.1007/S11825-014-0012-4
关键词:
摘要: Die molekulare Karyotypisierung mithilfe der „Array“-basierten genomischen Hybridisierung (Microarrays) ermoglicht nicht nur den genomweiten, hochauflosenden Nachweis von Kopienzahlveranderungen, -zugewinnen und -verlusten, sondern auch die Detektion bestimmter Mosaike. Der Beitrag gibt eine Ubersicht uber Einflussgrosen beim Mosaiken mit Microarrays verschiedene Mosaikfalle, sowohl Array-CGH (CGH: „comparative genomic hybridization“) als SNP-Arrays (SNP: „single nucleotide polymorphism“) erhoben wurden. Dabei wird anhand Moglichkeit aufgezeigt, wie Prozentsatz eines Mosaiks bestimmt werden kann.
springer.com
sci-hub.se 参考文章(9)
Leslie G. Biesecker, Nancy B. Spinner, A genomic view of mosaicism and human disease Nature Reviews Genetics. ,vol. 14, pp. 307- 320 ,(2013) , 10.1038/NRG3424
Nicholas J Neill, Beth S Torchia, Bassem A Bejjani, Lisa G Shaffer, Blake C Ballif, Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH Molecular Cytogenetics. ,vol. 3, pp. 11- 11 ,(2010) , 10.1186/1755-8166-3-11
Benjamín Rodríguez-Santiago, Núria Malats, Nathaniel Rothman, Lluís Armengol, Montse Garcia-Closas, Manolis Kogevinas, Olaya Villa, Amy Hutchinson, Julie Earl, Gaëlle Marenne, Kevin Jacobs, Daniel Rico, Adonina Tardón, Alfredo Carrato, Gilles Thomas, Alfonso Valencia, Debra Silverman, Francisco X. Real, Stephen J. Chanock, Luis A. Pérez-Jurado, Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome American Journal of Human Genetics. ,vol. 87, pp. 129- 138 ,(2010) , 10.1016/J.AJHG.2010.06.002
Blake C. Ballif, Emily A. Rorem, Kyle Sundin, Matt Lincicum, Shannon Gaskin, Justine Coppinger, Catherine D. Kashork, Lisa G. Shaffer, Bassem A. Bejjani, Detection of low-level mosaicism by array CGH in routine diagnostic specimens. American Journal of Medical Genetics Part A. ,vol. 140, pp. 2757- 2767 ,(2006) , 10.1002/AJMG.A.31539
Sau W Cheung, Chad A Shaw, Daryl A Scott, Ankita Patel, Trilochan Sahoo, Carlos A Bacino, Amber Pursley, Jiangzhen Li, Robert Erickson, Andrea L Gropman, David T Miller, Margretta R Seashore, Anne M Summers, Pawel Stankiewicz, A Craig Chinault, James R Lupski, Arthur L Beaudet, V Reid Sutton, None, Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics American Journal of Medical Genetics Part A. ,vol. 143, pp. 1679- 1686 ,(2007) , 10.1002/AJMG.A.31740
Hutton M. Kearney, Joseph B. Kearney, Laura K. Conlin, Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations Clinics in Laboratory Medicine. ,vol. 31, pp. 595- 613 ,(2011) , 10.1016/J.CLL.2011.08.003
Björn Menten, Nicole Maas, Bernard Thienpont, Karen Buysse, Jo Vandesompele, Cindy Melotte, Thomy de Ravel, Steven Van Vooren, Irina Balikova, Liesbeth Backx, Sandra Janssens, Anne De Paepe, Bart De Moor, Yves Moreau, Peter Marynen, Jean-Pierre Fryns, Geert Mortier, Koen Devriendt, Frank Speleman, Joris R Vermeesch, Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports Journal of Medical Genetics. ,vol. 43, pp. 625- 633 ,(2006) , 10.1136/JMG.2005.039453
Laura K. Conlin, Brian D. Thiel, Carsten G. Bonnemann, Livija Medne, Linda M. Ernst, Elaine H. Zackai, Matthew A. Deardorff, Ian D. Krantz, Hakon Hakonarson, Nancy B. Spinner, Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis Human Molecular Genetics. ,vol. 19, pp. 1263- 1275 ,(2010) , 10.1093/HMG/DDQ003
Roberto Valli, Cristina Marletta, Barbara Pressato, Giuseppe Montalbano, Francesco Lo Curto, Francesco Pasquali, Emanuela Maserati, Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cells Molecular Cytogenetics. ,vol. 4, pp. 13- 13 ,(2011) , 10.1186/1755-8166-4-13