Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH) - PubMed (original) (raw)

Case Reports

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)

J Schoumans et al. J Med Genet. 2005 Sep.

Abstract

Chromosomal aberrations are a common cause of multiple anomaly syndromes that include growth and developmental delay and dysmorphism. Novel high resolution, whole genome technologies, such as array based comparative genomic hybridisation (array-CGH), improve the detection rate of submicroscopic chromosomal abnormalities allowing re-investigation of cases where conventional cytogenetic techniques, Spectral karyotyping (SKY), and FISH failed to detect abnormalities. We performed a high resolution genome-wide screening for submicroscopic chromosomal rearrangements using array-CGH on 41 children with idiopathic mental retardation (MR) and dysmorphic features. The commercially available microarray from Spectral Genomics contained 2600 BAC clones spaced at approximately 1 Mb intervals across the genome. Standard chromosome analysis (>450 bands per haploid genome) revealed no chromosomal rearrangements. In addition, multi-subtelomeric FISH screening in 30 cases and SKY in 11 patients did not detect any abnormality. Using array-CGH we detected chromosomal imbalances in four patients (9.8%) ranging in size from 2 to 14 Mb. Large scale copy number variations were frequently observed. Array-CGH has become an important tool for the detection of chromosome aberrations and has the potential to identify genes involved in developmental delay and dysmorphism. Moreover, the detection of genomic imbalances of clinical significance will increase knowledge of the human genome by performing genotype-phenotype correlation.

PubMed Disclaimer

Similar articles

• Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.
  Monfort S, Roselló M, Orellana C, Oltra S, Blesa D, Kok K, Ferrer I, Cigudosa JC, Martínez F. Monfort S, et al. J Med Genet. 2008 Jul;45(7):432-7. doi: 10.1136/jmg.2008.057596. Epub 2008 Apr 15. J Med Genet. 2008. PMID: 18413373
• Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.
  Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM. Le Caignec C, et al. J Med Genet. 2005 Feb;42(2):121-8. doi: 10.1136/jmg.2004.025478. J Med Genet. 2005. PMID: 15689449 Free PMC article.
• Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation.
  Stankiewicz P, Beaudet AL. Stankiewicz P, et al. Curr Opin Genet Dev. 2007 Jun;17(3):182-92. doi: 10.1016/j.gde.2007.04.009. Epub 2007 Apr 30. Curr Opin Genet Dev. 2007. PMID: 17467974 Review.
• [Microarray-based comparative genomic hybridization in the study of constitutional chromosomal abnormalities].
  Béri-Dexheimer M, Bonnet C, Chambon P, Brochet K, Grégoire MJ, Jonveaux P. Béri-Dexheimer M, et al. Pathol Biol (Paris). 2007 Feb;55(1):13-8. doi: 10.1016/j.patbio.2006.04.002. Epub 2006 May 11. Pathol Biol (Paris). 2007. PMID: 16697120 Review. French.
• Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
  Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G. Caliskan MO, et al. Genet Couns. 2005;16(2):129-38. Genet Couns. 2005. PMID: 16080292

Cited by

• Evaluation and Risk Assessment of Congenital Anomalies in Neonates.
  Verma RP. Verma RP. Children (Basel). 2021 Sep 28;8(10):862. doi: 10.3390/children8100862. Children (Basel). 2021. PMID: 34682127 Free PMC article. Review.
• Genetic causes of intellectual disability in a birth cohort: a population-based study.
  Karam SM, Riegel M, Segal SL, Félix TM, Barros AJ, Santos IS, Matijasevich A, Giugliani R, Black M. Karam SM, et al. Am J Med Genet A. 2015 Jun;167(6):1204-14. doi: 10.1002/ajmg.a.37011. Epub 2015 Feb 27. Am J Med Genet A. 2015. PMID: 25728503 Free PMC article.
• Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization.
  Behjati F, Firouzabadi SG, Kariminejad R, Vameghi R, Sajedi F, Shafaghati Y, Ghasemlou BE, Shojaei A, Jamali P, Bahman I, Najmabadi H. Behjati F, et al. Indian J Hum Genet. 2013 Oct;19(4):443-8. doi: 10.4103/0971-6866.124373. Indian J Hum Genet. 2013. PMID: 24497710 Free PMC article.
• Differential expression analysis with global network adjustment.
  Gelfond JA, Ibrahim JG, Gupta M, Chen MH, Cody JD. Gelfond JA, et al. BMC Bioinformatics. 2013 Aug 23;14:258. doi: 10.1186/1471-2105-14-258. BMC Bioinformatics. 2013. PMID: 23968143 Free PMC article.
• Analysis of copy number variations in the sheep genome using 50K SNP BeadChip array.
  Liu J, Zhang L, Xu L, Ren H, Lu J, Zhang X, Zhang S, Zhou X, Wei C, Zhao F, Du L. Liu J, et al. BMC Genomics. 2013 Apr 8;14:229. doi: 10.1186/1471-2164-14-229. BMC Genomics. 2013. PMID: 23565757 Free PMC article.

Publication types

MeSH terms

LinkOut - more resources

• Full Text Sources

  • Europe PubMed Central
  • HighWire
  • Ovid Technologies, Inc.
  • PubMed Central

• Other Literature Sources

  • The Lens - Patent Citations Database

• Miscellaneous

  • NCI CPTAC Assay Portal