BAC array CGH reveals genomic aberrations in idiopathic mental retardation

American Journal of Medical Genetics

Volumn 140 A, Issue 3, 2006, Pages 205-211

  Miyake, Noriko ^a,b,p   Shimokawa, Osamu ^a,b,c   Harada, Naoki ^a,b,c   Sosonkina, Nadia ^a,b   Okubo, Aiko ^a   Kawara, Hiroki ^c   Okamoto, Nobuhiko ^d   Kurosawa, Kenji ^e   Kawame, Hiroshi ^f   Iwakoshi, Mie ^g   Kosho, Tomoki ^h   Fukushima, Yoshimitsu ^h   Makita, Yoshio ⁱ   Yokoyama, Yuji ^j   Yamagata, Takanori ^k   Kato, Mitsuhiro ^l   Hiraki, Yoko ^m   Nomura, Masayo ^a,b   Yoshiura, Ko Ichiro ^a,b   Kishino, Tatsuya ^b,n   Ohta, Tohru ^b,o   Mizuguchi, Takeshi ^b,p   Niikawa, Norio ^a,b   Matsumoto, Naomichi ^b,p   more..

^a NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^b JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^c Kyushu Medical Science Nagasaki Laboratory   (Japan)

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

^e KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^f National Hospital Organization   (Japan)

^g Nishinomiya Municipal Wakaba en   (Japan)

^h SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

ⁱ ASAHIKAWA MEDICAL COLLEGE   (Japan)

^j OKAYAMA UNIVERSITY MEDICAL SCHOOL   (Japan)

^k JICHI MEDICAL UNIVERSITY   (Japan)

^l YAMAGATA UNIVERSITY   (Japan)

^m Hiroshima Municipal Center for Child Health and Development   (Japan)

ⁿ NAGASAKI UNIVERSITY   (Japan)

^o HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

^p YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

more..

Author keywords

BAC array CGH; Chromosomal abnormality; FISH; Mental retardation

Indexed keywords

ARTICLE; BAC ARRAY; CHILD; CHROMOSOMAL LOCALIZATION; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DIAGNOSTIC VALUE; DNA MICROARRAY; DNA POLYMORPHISM; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE REARRANGEMENT; GENETIC ANALYSIS; HUMAN; HUMAN CELL; IDIOPATHIC MENTAL RETARDATION; MALE; MENTAL DEFICIENCY; MOLECULAR CLONING; PATHOGENESIS; PREDICTION; PRIORITY JOURNAL;

CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, ARTIFICIAL, BACTERIAL; FEMALE; GENOME, HUMAN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MENTAL RETARDATION; NUCLEIC ACID HYBRIDIZATION; TRANSLOCATION, GENETIC;

EID: 31944447396     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.31098     Document Type: Article

References (21)

1. Aleck KA, Argueso L, Stone J, Hackel JG, Erickson RP. 1999. True hermaphroditism with partial duplication of chromosome 22 and without SRY. Am J Med Genet 85:2-4.
2. Buckley PG, Mantripragada KK, Piotrowski A, Diaz de Stahl T, Dumanski JP. 2005. Copy-number polymorphisms: Mining the tip of an iceberg. Trends Genet 21:315-317.
3. de Silva MG, Elliott K, Dahl HH, Fitzpatrick E, Wilcox S, Delatycki M, Williamson R, Efron D, Lynch M, Forrest S. 2003. Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype. J Med Genet 40:733-740.
4. de Vries BB, White SM, Knight SJ, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OW, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM. 2001. Clinical studies on submicroscopic subtelomeric rearrangements: A checklist. J Med Genet 38:145-150.
5. de Vries BB, Winter R, Schinzel A, van Ravenswaaij-Arts C. 2003. Telomeres: A diagnosis at the end of the chromosomes. J Med Genet 40:385-398.
6. Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jalal SM. 2003. Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 73:1027-1040.
7. Fiegler H, Carr P, Douglas EJ, Burford DC, Hunt S, Scott CE, Smith J, Vetrie D, Gorman P, Tomlinson IP, Carter NP. 2003. DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosomes Cancer 36:301-374.
8. Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE. 1995. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 9:132-140.
9. Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y, Shimokawa O, Ida T, Nagai T, Fukushima Y, Yoshiura K, Niikawa N, Matsumoto N. 2004. Subtelomere specific microarray based comparative genomic hybridisation: A rapid detection system for cryptic rearrangements in idiopathic mental retardation. J Med Genet 41:130-136.
10. Hassed SJ, Hopcus-Niccum D, Zhang L, Li S, Mulvihill JJ. 2004. A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome. Clin Genet 65:400-404.
11. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. 2004. Detection of large-scale variation in the human genome. Nat Genet 36:949-951.
12. Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J. 1999. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-1681.
13. Kurosawa K, Harada N, Sosonkina N, Niikawa N, Matsumoto N, Saitoh S. 2004. Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with r(Y). Am J Med Genet Part A 130A:322-324.
14. Miyake N, Tonoki N, Gallegp M, Harada N, Shimokawa O, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. 2004. Phenotype-genotype correlation in two patients 12q proximal deletion. J Hum Genet 49:282-284.
15. Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N. Ohashi H, Kurosawa K, Naritomi K, Kaname T, Nagai T, Shotelersuk V, Hou J-H, Fukushima Y, Kondoh T, Matsumoto T, Shinoki T, Kato M, Tonoki T, Nomura M, Yoshiura K-i, Kishino T, Ohta T, Niikawa N, Matsumoto N. 2005. No causative genomic aberrations by BAC array CGH in Kabuki make-up syndrome. Am J Med Genet (in this issue).
16. Schinzel A. 2001. Catalogue of unbalanced chromosome aberrations in man. 2nd edition. New York: Walter de Gruyter.
17. Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M. 2004. Large-scale copy number polymorphism in the human genome. Science 305:525-528.
18. Seeherunvong T, Perera EM, Bao Y, Benke PJ, Benigno A, Donahue RP, Berkovitz GD. 2004. 46,XX sex reversal with partial duplication of chromosome arm 22q. Am J Med Genet Part A 127A:149-151.
19. Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. 2004. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/ mental retardation and dysmorphic features. J Med Genet 41:241-248.
20. Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, van der Vliet W, Huys EH, van Rijk A, Smeets D, van Ravenswaaij-Arts CM, Knoers NV, van der Burgt I, de Jong PJ, Brunner HG, van Kessel AG, Schoenmakers EF, Veltman JA. 2003. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 73:1261-1270.
21. Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, Mackenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid HE. 2005. Microduplication and triplication of 22q11.2: A highly variable syndrome. Am J Hum Genet 76:865-876.