medigraphic.com
Órgano Oficial del Instituto Nacional de Pediatría

2017, Número 6

<< Anterior

Acta Pediatr Mex 2017; 38 (6)


Abordaje citogenético y citogenómico de pacientes con discapacidad intelectual y malformaciones congénitas

Yokoyama-Rebollar E, Frías S, Del Castillo-Ruiz V

Idioma: Español
Referencias bibliográficas: 34
Paginas: 433-441
Archivo PDF: 1241.20 Kb.


FRAGMENTO

DEFINICIONES

La discapacidad intelectual (DI) o retraso mental tiene una prevalencia del 2-3% en la población general y se define como una alteración del neurodesarrollo que inicia antes de los 18 años. Se caracteriza por limitación importante en el funcionamiento intelectual y en el comportamiento adaptativo en áreas como comunicación y uso de fuentes para la misma, autocuidado, relaciones sociales o interpersonales, autodirección, funciones académicas, salud y seguridad. La DI se determina por un coeficiente intelectual (CI) menor de 70 puntos mediante escalas como la International Classification of Diseases (ICD-10), Diagnostic and Statistical Manual of Mental Disorders (DSM-V) y la clasificación World Health Organization (WHO).


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Rodríguez-Revenga Bodi L, Madrigal-Bajo I, Milà-Racasens M. Genetic mental retardation. Rev Neurol. 2006;43 (S1):S181-6.

  2. American Psychiatric Association. American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders. 5th ed. Arlington: 2013.

  3. American Association on Mental Retardation. Mental retardation: definition, classification, and systems of supports, 10th ed. Washington DC: American Association on Mental Retardation, 2002.

  4. WHO. The ICD-10 classification of mental and behavioural disorders. Geneva: WHO, 1992.

  5. Rudolph A, Kamei R, Overby Kim. Rudoph´s Fundamentals of Pediatrics. 3a Ed., Estados Unidos. Mc-Graw Hill 2002.

  6. McLaren J, Bryson SE. Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology. Am J Ment Retard 1987; 92: 243-54.

  7. Stevenson RE. Human malformations and related anomalies. En Stevenson RE, Hall JG. Human malformations and related anomalies. New York, Oxford University Press. 2006;1:3-13.

  8. Firth HV, Hurst JA. Approach to the consultation with a child with dysmorphism, congenital malformation, or developmental delay. Oxford Desk Reference - Clinical Genetics. Oxford University Press. 2005:4-5.

  9. Lugtenberg D, de Brouwer APM, Kleefstra T, Oudakker AR, Frints SGM, Schrander-Stumpel CTRM, et al. Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J Med Genet 2006;43:362–370.

  10. Castellví-Bel S, Milà M. Genes responsible for nonspecific mental retardation. Mol Genet Metab. 2001;72(2):104-8.

  11. Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev. Jun 2007;17(3):182-92.

  12. Eirís-Puñal J. Aportación de la genética y de los estudios neurometabólicos al diagnóstico del retraso mental. Rev Neurol 2006;43(Supl. 1):S177-S180.

  13. Tjio JH, Levan A. The chromosome number of man. Hereditas 1956;42:1–6.

  14. Lejeune J, Gautier M, Turpin R. Études des chromosomes somatiques de neuf enfants mongoliens. C R Acad Sci.1959;248(11):1721–1722.

  15. de Ravel TJ, Devriendt K, Fryns JP, Vermeesch JR. What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH). Eur J Pediatr. 2007;166(7):637-43.

  16. Xu J, Chen Z. Advances in molecular cytogenetics for the evaluation of mental retardation. Am J Med Genet C Semin Med Genet 2003; 117:15-24.

  17. Shevell M, Ashwal S, Donley D, Flint J, Gingold M, Hirtz D, et al. Quality Standards Subcommittee of the American Academy of Neurology; Practice Committee of the Child Neurology Society. Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology. 2003;60:367-80.

  18. Van Karnebeek CD, Jansweijer MC, Leenders AG, Offringa M, Hennekam RC. Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet. 2005;13:6-25.

  19. Guitart-Feliubadaló M, Brunet-Vega A, Villatoro-Gómez S, Baena-Díez N, Gabau-Vila E. Causas cromosómicas que originan el retraso mental: alteraciones cromosómicas diagnosticables en el paciente. Rev Neurol. 2006;42(Supl 1):S21-S26.

  20. Salinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Döhner H, Cremer T, Lichter P. Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer 1997;20(4):399–407.

  21. Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nature Genet .1998;20(2):207–211.

  22. Bejjani BA, Theisen AP, Ballif BC, Shaffer LG. Array-based comparative genomic hybridization in clinical diagnosis. Expert Rev Mol Diag. 2005; 5(3):421-429.

  23. Feero WG, Guttmacher AE, Collins FS. Genomic Medicine – An Update Primer. N Engl J Med. 2010;362:2001-11.

  24. Van Karnebeek CD, Jansweijer MC, Leenders AG, Offringa M, Hennekam RC. Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet. 2005;13:6-25.

  25. Shaffer LG, Bejjani BA, Torchia B, Kirkpatrick S, Coppinger J, Blallif BC. The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future. Am J Med Genet Part C Semin Med Genet. 2007;145c:335-345.

  26. Ballif BC, Sulpizio SG, Lloyd RM, Minier SL, Theisena A, Bejjani BA, Shaffer LG. The clinical utility of enhaced subtelomeric coverage in array CGH. Am J Med Genet Part A. 2007;1143a:1850-1857.

  27. Shaffer LG, Ballif BC, Theisen A, Rorem E, Bejjani BA, Torchia BA. In the middle of it all: a centered approach to chromosome analysis. Expert Opin Med Diagn. 2008;2(2):1-8.

  28. Qiao Y, Badduke C, Mercier E, Lewis SM, Pavlidis P, Raican- Separovic E. miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability. BMC Genomics. 2013;14:544.

  29. Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, Otto PA, et al. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J Med Genet. 2006;43(2):180-6.

  30. Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Armstrong L, et al. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet. 2006;79(3):500-13.

  31. Krepischi-Santos AC, Vianna-Morgante AM, Jehee FS, Passos-Bueno MR, Knijnenburg J, Szuhai K, et al. Wholegenome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. Cytogenet Genome Res. 2006;115(3-4):254-61.

  32. Uwineza A, Caberg JH, Hitayezu J, Hellin AC, Jamar M, Dideberg V, Rusingiza EK, Bours V, Mutesa L. Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies. BMC Med Genet. 2014;15:79. doi: 10.1186/1471-2350-15-79.

  33. Choucair N, Ghoch JA, Corbani S, Cacciagli P, Mignon-Ravix C, Salem N, et al. Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients. Mol Cytogenet. 2015;8:26. doi: 10.1186/s13039-015-0130-y.

  34. Yokoyama-Rebollar E. Detección de alteraciones cromosómicas por microarreglos-cgh y su relación en pacientes que cursan con retraso mental o retraso psicomotor idiopático. 2016. http://132.248.9.195/ptd2016/febrero/503041247/ Index.html




2020     |     www.medigraphic.com