Karyotip phân tử trong chẩn đoán di truyền
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Bruno DL et al (2011) Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. Hum Mutat 32(12):1500–1506
Bruno DL et al (2011) Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping. J Med Genet 48(12):831–839
Conlin LK et al (2010) Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet 19(7):1263–1275
Leeuw N de et al (2012) Diagnostic interpretation of array data using public databases and internet sources. Hum Mutat
Deak KL, Horn SR, Rehder CW (2011) The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity. Clin Lab Med 31(4):543–64, viii
Hanemaaijer NM et al (2012) Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics. Eur J Hum Genet 20(2):161–165
Haraksingh RR et al (2011) Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms. PLoS One 6(11):e27859
Miller DT et al (2010) Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86(5):749–764
Morrow EM (2010) Genomic copy number variation in disorders of cognitive development. J Am Acad Child Adolesc Psychiatry 49(11):1091–1104
Schaaf CP, Wiszniewska J, Beaudet AL (2011) Copy number and SNP arrays in clinical diagnostics. Annu Rev Genomics Hum Genet 12:25–51
Su Z et al (2011) Next-generation sequencing and its applications in molecular diagnostics. Expert Rev Mol Diagn 11(3):333–343
Deutsche Gesellschaft für Humangenetik e. V., Berufsverband Deutscher Humangenetiker e. V. (2011) S2-Leitlinie Humangenetische Diagnostik. Med Genet 23:281–323
Scheinin et al. (2012) Posterpräsentation ISCO-Konferenz 2012