Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis

Journal of Human Genetics

Volumn 52, Issue 5, 2007, Pages 397-405

  Hayashi, Shin ^a,e   Honda, Shozo ^a,e   Minaguchi, Maki ^a,e   Makita, Yoshio ^b   Okamoto, Nobuhiko ^c   Kosaki, Rika ^d   Okuyama, Torayuki ^d   Imoto, Issei ^a,e   Mizutani, Shuki ^a   Inazawa, Johji ^a,e  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b ASAHIKAWA MEDICAL COLLEGE   (Japan)

^c RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^d NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^e JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

Array CGH; Chromosome X; IL1RAPL2; Mosaicism; Schinzel Giedion syndrome (SGS); Tiling array; X linked mental retardation

Indexed keywords

ACROCALLOSAL SYNDROME; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME ABERRATION; CHROMOSOME XQ; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DNA HYBRIDIZATION; FEMALE; GENE DUPLICATION; GENE IDENTIFICATION; HUMAN; HUMAN TISSUE; MALE; MOSAICISM; PRESCHOOL CHILD; X CHROMOSOME; X LINKED MENTAL RETARDATION; Y CHROMOSOME;

CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, X; GENE DOSAGE; GENETIC DISEASES, X-LINKED; HUMANS; INTERLEUKIN-1 RECEPTOR ACCESSORY PROTEIN; MALE; MENTAL RETARDATION, X-LINKED; MICROARRAY ANALYSIS; NUCLEIC ACID HYBRIDIZATION;

BACTERIA (MICROORGANISMS);

EID: 34247570536     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0127-4     Document Type: Article

References (35)

1. Antich J, Manzanares R, Camarasa F, Krauel X, Vila J, Cusi V (1995) Schinzel-Giedion syndrome: report of two sibs. Am J Med Genet 59:96-99
2. Bauters M, Van Esch H, Marynen P, Froyen G (2005) X chromosome array-CGH for the identification of novel X-linked mental retardation genes. Eur J Med Genet 48:263-275
3. Bejjani BA, Saleki R, Ballif BC et al (2005) Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet 134:259-267
4. Carrié A, Jun L, Bienvenu T et al (1999) A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet 23:25-31
5. Cowell JK, LaDuca J, Rossi MR, Burkhardt T, Nowak NJ, Matsui S (2005) Molecular characterization of the t(3;9) associated with immortalization in the MCF10A cell line. Cancer Genet Cytogenet 163:23-29
6. Culic V, Resic B, Oorthuys JW, Overweg-Plandsoen WC, Hennekam RC (1996) A Croatian patient of the Schinzel-Giedion syndrome. Genet Couns 7:21-25
7. Ferrante MI, Ghiani M, Bulfone A, Franco B (2001) IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system. Gene 275:217-221
8. Hayashi S, Kurosawa K, Imoto I, Mizutani S, Inazawa J (2005) Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization. Am J Med Genet 139:32-36
9. Honda S, Hayashi S, Kato M et al (2007) Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene. Am J Med Genet (in press)
10. Inazawa J, Saito H, Ariyama T, Abe T, Nakamura Y (1993) High-resolution cytogenetic mapping of 342 new cosmid markers including 43 RFLP markers on human chromosome 17 by fluorescence in situ hybridization. Genomics 17:153-162
11. Inazawa J, Inoue J, Imoto I (2004) Comparative genomic hybridization (CGH)-arrays pave the way for identification of novel cancer-related genes. Cancer Sci 95:559-563
12. Jin H, Gardner RJ, Viswesvaraiah R, Muntoni F, Roberts RG (2000) Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation. Eur J Hum Genet 8:87-94
13. Jones KL (2006) SMITH's recognizable patterns of human malformation. Elsevier Saunders, Philadelphia, pp 250-251
14. Kok K, Dijkhuizen T, Swart YE et al (2005) Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation. Eur J Med Genet 48:250-262
15. Krantz ID, McCallum J, DeScipio C et al (2004) Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36:631-635
16. Kubota T, Nonoyama S, Tonoki H et al (1999) A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR. Hum Genet 104:49-55
17. Minn D, Christmann D, De Saint-Martin A et al (2002) Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two patients. Am J Med Genet 109:211-217
18. Musio A, Selicorni A, Focarelli M.L et al (2006) X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 38:528-530
19. Panasiuk B, Midro AT, Zadrozna-Tolwinska B (1997) Earlier finishing of Xp21.2 subband replication of the inactive X chromosome in Rett syndrome girl but not in her 47,XXX mother. Clin Genet 52:120-125
20. Pinkel D, Segraves R, Sudar D et al (1998) High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20:207-211
21. Redon R, Ishikawa S, Fitch KR et al (2006) Global variation in copy number in the human genome. Nature 444:444-454
22. Rosenberg C, Knijnenburg J, Chauffaille Mde L et al (2005) Array CGH detection of a cryptic deletion in a complex chromosome rearrangement. Hum Genet 116:390-394
23. Saito-Ohara F, Fukuda Y, Ito M et al (2002) The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. Am J Hum Genet 71:637-645
24. Sana TR, Debets R, Timans JC, Bazan JF, Kastelein RA (2000) Computational identification, cloning, and characterization of IL-1R9, a novel interleukin-1 receptor-like gene encoded over an unusually large interval of human chromosome Xq22.2-q22.3. Genomics 69:252-262
25. Sanlaville D, Lapierre JM, Turleau C et al (2005) Molecular karyotyping in human constitutional cytogenetics. Eur J Med Genet 48:214-231
26. Schinzel A, Giedion A (1978) A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am J Med Genet 1:361-375
27. Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM, Nordenskjold M (2005) Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet 42:699-705
28. Tabolacci E, Pomponi MG, Pietrobono R, Terracciano A, Chiurazzi P, Neri G (2006) A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. Am J Med Genet 140:482-487
29. Takada H, Imoto I, Tsuda HS et al (2005) Screening of DNA copy-number aberrations in gastric cancer cell lines by array-based comparative genomic hybridization. Cancer Sci 96:100-110
30. Tanabe C, Aoyagi K, Sakiyama T et al (2003) Evaluation of a whole-genome amplification method based on adaptor-ligation PCR of randomly sheared genomic DNA. Genes Chromosomes Cancer 38:168-176
31. Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T (2004) NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 36:636-641
32. Tyson C, Harvard C, Locker R et al (2005) Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet 139:173-185
33. Veltman JA, Yntema HG, Lugtenberg D et al (2004) High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation. J Med Genet 41:425-432
34. Vermeesch JR, Melotte C, Froyen G et al (2005) Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem 53:413-422
35. Zechner U, Wilda M, Kehrer-Sawatzki H, Vogel W, Fundele R, Hameister H (2001) A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution? Trends Genet 17:697-701