1) Shimada S, et al.:An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease. Am J Med Genet A 2012;158A:1771-1777
Prof．山本の マイクロアレイ染色体検査入門
商品紹介
2021年10月より保険収載されたマイクロアレイ染色体検査．マイクロアレイ染色体検査の適用は？どのようなときに行うべきか？患者さんへの説明はどうしたらよいか？結果をどう解釈したらよいか？など，さまざまな疑問や注意すべきピットフォールについて，著者がわかりやく解説した入門書．イラストも多数掲載．
目次
- 巻頭資料
序 文
マイクロアレイ染色体検査の保険適用にかかる内容
第1章 総論 マイクロアレイ染色体検査の基本
A マイクロアレイ染色体検査とは？
(1)Gバンド分染法との違い
(2)マイクロアレイ染色体検査のうちCGH法の基礎
(3)SNP法とCGH法の違い
(4)検査結果の見方：染色体異常という場合とCNVという場合で何が違いますか？
(5)染色体微細欠失を診断するFISH法との違い
(6)M-FISH（SKY）法について
(7)高精度分染法について
B マイクロアレイ染色体検査の適用は？
(1)患者さんへのマイクロアレイ染色体検査の適用
(2)マイクロアレイ染色体検査が適用とならない場合
(3)劣性遺伝性疾患の場合
(4)マイクロアレイ染色体検査では検出できない疾患
C マイクロアレイ染色体検査特有の注意点
(1)CNVの臨床意義
(2)二次的所見について
(3)モザイク
(4)マイクロアレイ染色体検査の限界
D マイクロアレイ染色体検査を実施するにあたりどのように説明したらよいか？
(1)患者さんへの説明の前に
(2)患者さんや家族への説明時に心がけること
(3)説明の要点
資料 マイクロアレイ染色体検査の事前説明
第2章 各論I どのような所見がみつかる？
A 染色体微細欠失／重複
(1)古典的染色体微細欠失症候群
(2)古典的染色体微細欠失症候群領域の重複
(3)Prader-Willi症候群／Angelman症候群
(4)15q重複
(5)LCRによる新規染色体微細欠失／重複症候群
(6)LCRによらない新規染色体微細欠失／重複症候群
(7)染色体微細重複
B サブテロメア異常
(1)サブテロメア欠失症候群
(2)不均衡転座
(3)染色体均衡転座保因者診断
(4)de novo均衡転座
(5)INV-DUP-DEL
(6)22番に関連した派生染色体
(7)12pテトラソミー
C 複雑な構造異常
(1)2か所以上のCNV
(2)3重複
第3章 各論II マイクロアレイ染色体検査の結果が帰ってきたら
A CNV所見の解釈
(1)確認すべき情報
(2)データベース検索
(3)診断は間違いないか？
(4)文献検索
(5)典型的なbenign CNV
B LOH所見の解釈
(1)欠失と一致するLOH
(2)欠失と一致しないLOH
(3)広範囲のLOH
C 両親解析が必要な場合
(1)中間部欠失／重複をみつけたら
(2)サブテロメア欠失も均衡転座由来の可能性を考える
(3)サブテロメア重複
(4)不均衡転座をみつけたら
(5)Ｘ染色体における欠失／重複
(6)Ｘ染色体がかかわる転座
(7)親世代のモザイク保因者の可能性
(8)LOHは両親解析を行うとハプロタイプから由来も同定可能
D さらに踏み込んで
(1)劣性遺伝性疾患の可能性は？
(2)何も所見がなかったら？
(3)DECIPHER登録
(4)複雑な構造異常
(5)Gバンド分染法との結果の齟齬
この書籍の参考文献
参考文献のリンクは、リンク先の都合等により正しく表示されない場合がありますので、あらかじめご了承下さい。
本参考文献は電子書籍掲載内容を元にしております。
第1章 総論 マイクロアレイ染色体検査の基本
P.24 掲載の参考文献
第2章 各論I どのような所見がみつかる ?
P.56 掲載の参考文献
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2) Burnside RD, et al.:Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2:a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet 2011;130:517-528
3) Isles AR, et al.:Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders. PLoS Genet 2016;12:e1005993
4) Iwasaki N, et al.:Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5. Hum Genome Var 2016;3:16022
5) Upadhyai P, et al.:Recurrent 1q21.1 deletion syndrome:report on variable expression, nonpenetrance and review of literature. Clin Dysmorphol 2020;29:127-131
6) Shimojima K, et al.:A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae. Eur J Med Genet 2009;52:433-435
7) Yamamoto-Shimojima K, et al.:Three Japanese patients with 3p13 microdeletions involving FOXP1. Brain Dev 2019;41:257-262
8) Shimojima K & Yamamoto T:Characteristics of rare and private deletions identified in phenotypically normal individuals. Hum Genome Var 2017;4:17037
9) Yamamoto T, et al.:Pelizaeus-Merzbacher disease as a chromosomal disorder. Congenit Anom (Kyoto) 2013;53:3-8
10) Yamamoto T, et al.:Clinical impacts of genomic copy number gains at Xq28. Hum Genome Var 2014;1:14001
11) Usui D, et al.:Interstitial duplication of 2q32.1-q33.3 in a patient with epilepsy, developmental delay, and autistic behavior. Am J Med Genet A 2013;161A:1078-1084
12) Yoshitomi S, et al.:Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications. Brain Dev 2015;37:874-879
P.72 掲載の参考文献
1) Shimada S, et al.:Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications. Brain Dev 2015;37:515-526
2) Shimojima K, et al.:Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination. J Hum Genet 2012;57:593-600
3) Kellogg G, et al.:Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region. Am J Med Genet A 2013;161A:1405-1408
4) Ogura K, et al.:Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia. Am J Med Genet B Neuropsychiatr Genet 2014;165B:684-690
5) Moghadasi S, et al.:A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation family. Am J Med Genet A 2014;164A:2863-2868
6) Green C, et al.:De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus. Am J Med Genet A 2017;173:3165-3171
7) Pollak RM, et al.:Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome:results from the 3q29 registry. Mol Autism 2019;10:30
8) Yamamoto-Shimojima K, et al.:Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities. Congenit Anom (Kyoto) 2019;59:169-173
9) Rossi MR, et al.:Clinical and genomic characterization of distal duplications and deletions of chromosome 4q:study of two cases and review of the literature. Am J Med Genet A 2009;149A:2788-2794
10) Nguyen JM, et al.:5p deletions:Current knowledge and future directions. Am J Med Genet C Semin Med Genet 2015;169:224-238
11) Rauch A, et al.:Chromosome 5q subtelomeric deletion syndrome. Am J Med Genet C Semin Med Genet 2007;145C:372-376
12) Eid M, et al.:Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion. Neuropediatrics 2020;51:76-82
13) Descipio C, et al.:Subtelomeric deletions of chromosome 6p:molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. Am J Med Genet A 2005;134A:3-11
14) Peddibhotla S, et al.:Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27. Eur J Hum Genet 2015;23:54-60
15) Yu AC, et al.:Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome? Am J Med Genet A 2017;173:1593-1600
16) Shimojima K, et al.:7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly. Eur J Med Genet 2016;59:502-506
17) Ayub S, et al.:Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations. Am J Med Genet A 2016;170A:896-907
18) Paez MT, et al.:Two patients with atypical interstitial deletions of 8p23.1:mapping of phenotypical traits. Am J Med Genet A 2008;146A:1158-116
19) Dauber A, et al.:SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant [published correction appears in Am J Hum Genet. 2013 Nov 7;93(5):994]. Am J Hum Genet 2013;93:798-811
20) Shimojima K, et al.:Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH. Am J Med Genet A 2009;149A:1076-1080
21) Onesimo R, et al.:Chromosome 9p deletion syndrome and sex reversal:novel findings and redefinition of the critically deleted regions. Am J Med Genet A 2012;158A:2266-2271
22) He X, et al.:Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome. Neurol Genet 2016;2:e58
23) Cobben JM, et al.:A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability. Eur J Med Genet 2014;57:636-638
24) Lacaria M, et al.:Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet. Am J Med Genet A 2017;173:1611-1619
25) Irving M, et al.:Deletion of the distal long arm of chromosome 10;is there a characteristic phenotype? A report of 15 de novo and familial cases. Am J Med Genet A 2003;123A:153-163
26) Beygo J, et al.:A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome. Eur J Hum Genet 2016;24:1280-1286
27) Fokstuen S, et al.:Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome. Am J Med Genet A 2014;164A:1595-1605
28) Takahashi I, et al.:Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years. Am J Med Genet A 2012;158A:220-223
29) Silva IM, et al.:A 1.5Mb terminal deletion of 12p associated with autism spectrum disorder. Gene 2014;542:83-86
30) Kehrer M, et al.:12q24.33 deletion:report of a patient with intellectual disability and review of the literature. Am J Med Genet A 2013;161A:1409-1413
31) Levy J, et al.:EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder. Clin Genet 2018;93:1141-1147
32) Okamoto N, et al.:Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation. Mol Genet Genomic Med 2017;5:585-591
33) Engels H, et al.:A phenotype map for 14q32.3 terminal deletions. Am J Med Genet A 2012;158A:695-706
34) Davidsson J, et al.:Array based characterization of a terminal deletion involving chromosome subband 15q26.2:an emerging syndrome associated with growth retardation, cardiac defects and developmental delay. BMC Med Genet 2008;9:2
35) Babbs C, et al.:ATR-16 syndrome:mechanisms linking monosomy to phenotype. J Med Genet 2020;57:414-421
36) Gnazzo M, et al.:KBG syndrome:Common and uncommon clinical features based on 31 new patients. Am J Med Genet A 2020;182:1073-1083
37) Shimojima K, et al.:Genomic copy number variations at 17p13.3 and epileptogenesis. Epilepsy Res 2010;89:303-309
38) Probst FJ, et al.:De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. Orphanet J Rare Dis 2015;10:75
39) Turleau C:Monosomy 18p. Orphanet J Rare Dis 2008;3:4
40) Margarit E, et al.:Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability. Am J Med Genet A 2012;158A:611-616
41) Scollon S, et al.:Haploinsufficiency of STK11 and neighboring genes cause a contiguous gene syndrome including Peutz-Jeghers phenotype. Am J Med Genet A 2012;158A:2959-2962
42) An Y, et al.:SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay. Am J Med Genet B Neuropsychiatr Genet 2013;162B:832-840
43) Okumura A, et al.:Phenotypes of children with 20q13.3 microdeletion affecting KCNQ2 and CHRNA4. Epileptic Disord 2015;17:165-171
44) Yamamoto T, et al.:Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6. Am J Med Genet A 2011;155A:113-119
45) Cusmano-Ozog K, et al.:22q13.3 deletion syndrome:a recognizable malformation syndrome associated with marked speech and language delay. Am J Med Genet C Semin Med Genet 2007;145C:393-398
46) Cho SY, et al.:Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature. Am J Med Genet A 2012;158A:1462-1466
47) Yamamoto T, et al.:Clinical impacts of genomic copy number gains at Xq28. Hum Genome Var 2014;1:14001
48) Emanuel BS:Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev 2008;14:11-18
49) Hiraiwa A, et al.:Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis. Brain Dev 2021;43:448-453
P.78 掲載の参考文献
1) Shimada S, et al.:Microdeletions of 5.5 Mb(4q13.2-q13.3) and 4.1 Mb(7p15.3-p21.1) associated with a saethre-chotzenlike phenotype, severe intellectual disability, and autism. Am J Med Genet A 2013;161A:2078-2083
2) Shimojima K, et al.:Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome. Am J Med Genet A 2011;155A:2293-2297
3) Yanagishita T, et al.:Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern. Hum Mutat 2020;41:2119-2127
4) Shimojima K, et al.:Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region. Eur J Med Genet 2012;55:400-403
第3章 各論II マイクロアレイ染色体検査の結果が帰ってきたら
P.93 掲載の参考文献
1) Komoike Y, et al.:Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly. Genesis 2010;48:233-243
P.97 掲載の参考文献
1) Shimojima K, et al.:A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease. J Neurol Sci 2013;330:123-126
P.111 掲載の参考文献
1) Yamamoto Y, et al.:A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features. Congenit Anom(Kyoto) 2016;56:253-255
2) Abe Y, et al.:Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion. Hum Genome Var 2020;7:17
3) 齋藤伸治:先天性心疾患に精神運動発達の遅れを伴った6か月女児. 日本小児神経学会(編), 山本俊至(監), 症例でわかる小児神経疾患の遺伝学的アプローチ. 診断と治療社, 2019, 147-149
4) Yamamoto T, et al.:MED13L haploinsufficiency syndrome:A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. Am J Med Genet A 2017;173:1264-1269
5) Shimojima K, et al.:Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly. Eur J Med Genet 2017;60:650-654
P.120 掲載の参考文献
1) Imaizumi T, et al.:Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing. J Hum Genet 2020;65:735-741
2) Imaizumi T, et al.:Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome. Hum Genet 2020;139:1555-1563
3) Yanagishita T, et al.:Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern. Hum Mutat 2020;41:2119-2127
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