教育コンテンツ

・染色体異常をみつけたら

参考URL・参考図書

・Shaffer LG, McGowan-Jordan J, Schmid M (eds). ISCN 2013: An International System for Human Cytogenetic Nomenclature: Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature (Basel , S Karger Pub, 2012)

・Gardner RJM, Sutherland GR, Shaffer LG. Chromosome Abnormalities and Genetic Counseling (Oxford Monographs on Medical Genetics) (New York: Oxford University Press, 2011)

・Liehr T. Benign & pathological chromosomal imbalances: Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling. 1st edn (New York: Oxford Academic Press, 2013).

・Wyandt HE, Tonk VS. Human Chromosome Variation: Heteromorphism and Polymorphism. 1st edn (Netherlands:Springer,2011)

・涌井敬子, 福嶋義光，松田和之　他．染色体検査．臨床検査法提要　改訂第33版，pp.1117-1164，金井正監修.（金原出版，2010）　
＊もうすぐ改訂版がでますので，それからでもよいとおもいますが

・山本俊至．臨床遺伝に関わる人のためのマイクロアレイ染色体検査（診断と治療社，2011)

・Chromosomal Variation in Man Online Database

・Unique The Rare Chromosome Disorder Support Group

・The European Cytogenetic Association Register of Unbalanced Chromosome Abnormalities (ECARUCA)

・The Chromosome Anomaly Collection

・Atlas of Genetics and Cytogenetics in Oncology and Haematology

・Database of Genomic Variants (DGV)

・The DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensemble Resources (DECIPHER)

・The International Collaboration for Clinical Genomics
＊旧ISCA：The International Standards for Cytogenomic Arrays

・ClinVar

・Online Mendelian Inheritance in Man

・GeneTests

・Orphanet

・AMERICAN COLLEGE OF MEDICAL GENETICS Standards and Guidelines for Clinical Genetics Laboratories 2009 Edition

・The Association of Genetic Technologists, Inc. (AGT)

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