Márquez-González H, Márquez-Flores H, Camarrillo-Blancarte L, Morales-Aguirre AM, Muñoz-Ramírez C, Sepúlveda-Vildósola AC

Language: Spanish
References: 13
Page: 275-279
PDF size: 161.29 Kb.

ABSTRACT

Mental retardation (MR), is a common neurological condition in children. Its etiology may be genetic or environmental. In the first case, all the disorders that cause it have not been identified and a considerable number of patients do not have an accurate diagnosis. Microarrays are derived from comparative genomic hybridization (CGH), which can determine sites of deletions, insertions or translocations.
This technique has made it possible to determine chromosomal syndromes not previously described such as: 17q21.31 deletion, deletion 15q24 or 1q21 deletion.
It can be done in large populations or be individualized. The introduction of this technique has begun to resolve doubts regarding monogenic or polygenic RMI.

REFERENCES

1. Márquez-Caraveo ME, Zanabria-Salcedo M, Pérez-Barrón V, Aguirre-García E, Arciniega-Buenrostro L, Galván-García CS. Epidemiología y manejo integral de la discapacidad intelectual. Salud Mental. 2011;34:443-9.

2. American Association on Mental Retardation. 1992. Mental Retardation: Definition, Classification, and Systems of Supports. Washington, DC: American Association on Mental Retardation.

3. Mao R, Pevsner J. Mental retardation and developmental disabilities. Res Rev. 2005;11:279-85.

4. Benítez Bribiesca L. Los microarreglos de DNA y su aplicación clínica. Acta Méd Grupo Ángeles. 2004;2(2):125-7.

5. Nebert DW, Zhang GS, Vesell E. From Human Genetics and Genomics to Pharmacogenetics and Pharmacogenomics: Past Lessons, Future Directions. Drug Metab Rev. 2008;40(2):187– 224.

6. Lisenka EL, Vissers M, de Vries BBA, Veltman JA. Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis. J Med Genet. 2010;47:289e97.

7. Magoulas PL, El-Hattab W. Chromosome 15q24 microdeletion syndrome. Orphanet J Rare Dis. 2012;7:2-9.

8. El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, et al. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet. 2009;126:589e602.

9. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C. A copy number variation morbidity map of developmental delay. Nat Genet. 2011;43(9):838-46.

10. Aswini S, Venkata OP, Saranya G, Durgadatta T, Raseswari T, Kanakavalli M Kulashekaran. De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation. Mol Cytogen. 2011;21:2-10.

11. Cuoco C, Ronchetto P, Gimelli S, Béna F, Divizia T, Lerone M, et al. Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene from a normal father to his two affected children. Orphanet J Rare Dis. .2011;6:12- .

12. Manning M, Hudgins L. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010;12(11):742–5.

13. Tucker T, Montpetit A, Chai D, Chan S, Chénier S, Coe BP. Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC Med Gen. 2011;4(25):1-10.