2017, Número 1
<< Anterior
Rev Mex Pediatr 2017; 84 (1)
Cromosomas, cromosomopatías y su diagnóstico
Esparza-García E, Cárdenas-Conejo A, Huicochea-Montiel JC, Aráujo-Solís MA
Idioma: Español
Referencias bibliográficas: 35
Paginas: 30-39
Archivo PDF: 406.50 Kb.
RESUMEN
El cromosoma está constituido por una molécula de ADN que mantiene su estructura e integridad con la ayuda de otras moléculas. Las cromosomopatías son padecimientos que resultan de una cantidad mayor o menor de material hereditario y son causa de anomalías congénitas en menos del 2% de los recién nacidos vivos. Se clasifican en alteraciones numéricas y estructurales. La exploración física resulta fundamental para establecer la sospecha diagnóstica y para confirmarla se utilizan el cariotipo y otras técnicas de citogenética molecular como FISH, MLPA y array CGH. Para un proceso de atención adecuado en el paciente con sospecha de una anomalía cromosómica se necesita un abordaje multidisciplinario, de tal manera que toda evaluación clínica, diagnóstica, terapéutica y de vigilancia del estado de salud del paciente, además del asesoramiento genético, sea llevada a cabo de forma integral y para cada familia en particular.
REFERENCIAS (EN ESTE ARTÍCULO)
Aparicio-Rodríguez JM, Hurtado-Hernández MD, Marroquín-García I, Rojas-Rivera G, Barrientos-Pérez M, Gil-Orduña NC et al. Main chromosome aberrations among 4617 chromosomal studies at a third level pediatric Mexican hospital in 19 years period of time. Int J Genet Mol Biol. 2011, 3(11): 161-184.
Stevenson R. Human malformations and related anomalies. En: Human malformations and related anomalies. Stevenson RE, Hall JG eds. 2nd ed. Oxford University Press. New York, NY 2006, pp 14.
Moore CM, Best RG. Chromosomal genetic disease: structural aberrations. Encyclopedia of life sciences. 2001. Nature Publish Group.
Hastings R, Howell R, Bricarelli FD, Kristoffersson U, Cavani S. A common European framework for quality assessment for constitutional, acquired and molecular cytogenetic investigations. ECA Permanent Working Group for Cytogenetics and Society. 2012; 29: 1-25.
Shaffer LG, American College of Medical Genetics Professional Practice and Guidelines Committee. American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation. Genet Med. 2005; 7(9): 650-654.
Stuppia L, Antonucci I, Palka G, Gatta V. Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases. Int J Mol Sci. 2012; 13: 3245-3276.
Palmer EE, Peters GB, Mowat D. Chromosome microarray in Australia: a guide for paediatricians. J Paediatr Child Health. 2012; 48: E59-67.
Stravopulos J, Shago M. CCMG Guidelines for Genomic Microarray Testing. CCMG Board of Directors. 2010.
Bishop R. Applications of fluorescence in situ hybridization (FISH) in detecting genetic aberrations of medical significance. Bioscience Horizons. 2010; 3(1): 85-95.
Alberman E, Mutton D, Morris JK. Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004-2009. Am J Med Genet A. 2012; 158A: 1145-1150.
Secretaría de Salud. Centro Nacional de Equidad de Género y Salud Reproductiva. Atención Integral de la Persona con síndrome de Down. Lineamiento Técnico. Secretaría de Salud 2007.
Sillence K, Madgett T, Robert L, Overthon T, Avent N. Non-invasive screening tools for down’s syndrome: a review. Diagnostics. 2013; 3: 291-314.
Morris JK, Mutton DE, Alberman E. Revised estimates of the maternal age specific live birth prevalence of Down‘s syndrome. J Med Screen. 2002; 9: 2-6.
Cereda A, Carey J. The trisomy 18 syndrome. Orphanet J Rare Dis. 2012; 7: 81.
Baty B, Blackburn B, Carey J. Natural History of Trisomy 18. Am J Hum Genet. 1994; 49: 175-188.
Bruns D. Birth history, physical characteristics, and medical conditions in long-term survivors with full trisomy 13. Am J Med Genet Part A. 2011, 155: 2634-2640.
Hall HE, Chan ER, Collins A, Judis L, Shirley S, Surti U et al. The Origin of Trisomy 13. Am J Med Genet Part A. 2007; 143A: 2242-2248.
Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med. 2004; 351: 1227-1238.
Sutton E, McInerney-Leo A, Bondy C, Gollust S, King D, Biesecker B. Turner syndrome: four Challenges Across the Lifespan. Am J Med Genet. 2004; 139A: 57-66.
Guía de Práctica Clínica Diagnóstico, Tratamiento y Cuidado de la Salud en niñas y mujeres con Síndrome de Turner. México: Secretaría de Salud, 2012.
Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006, 91: 3897-3902.
Ranke MB, Saenger P. Turner’s syndrome. Lancet. 2001; 358: 309-314.
Visootsak J, Graham Jr. J. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis. 2006; 1(42): 1750-1172.
Bojesen A, Juul S, Gravholt CH. Prenataland postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab. 2003; 88: 622-626.
Herlihy AS, Halliday JL, Cock ML, McLachlan RI. The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison. Med J Aust. 2011; 194: 24-28.
Morris JK, Alberman E, Scott C, Jacobs P. Is the prevalence of Klinefelter syndrome increasing? Eur J Hum Genet. 2008; 16: 163-170.
Thomas N, Hassold T. Aberrant recombination and the origin of Klinefelter syndrome. Hum Reprod. 2003; 9(4): 309-317.
Meza-Espinoza JP, Davalos-Rodríguez IP, Rivera-Ramírez H, Perez-Muñoz S, Rivas-Solís F. Chromosomal abnormalities in patients with azoospermia in Western Mexico. Arch Andro. 2006; 52(2): 87-90.
Venegas-Vega CA, Fernández-Ramírez F, Zepeda LM, Nieto-Martínez K, Gómez-Laguna L, Garduño-Zarazúa LM et al. Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques. Biomed Res Int. 2013, Article ID 209204, 8 pages.
Battaglia A, Filippi T, Carey JC. Update on the clinical features and natural history of Wolf–Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. Am J Med Genet Part C Semin Med Genet. 2008; 148C: 246-251.
Cerruti MP. Cri-Du-Chat syndrome. Orphanet J Rare Dis. 2006; 1 (33):
Mainardi PC, Perfumo C, Calì A, Coucourde G, Pastore G, Cavani S et al. Clinical and molecular characterization of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet. 2001; 38: 151-158.
Monteiro FP, Vieira T, Sgardioli IC, Molck MC, Damiano A, Souza J et al. Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature. Eur J Pediatr. 2013; 172: 927-945.
Hacıhamdioğlu B, Hacıhamdioğlu D, Delil K. 22q11 deletion syndrome: current perspective. Applic of Clin Genet. 2015: 8: 123-132.
McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion syndrome. 1999 Sep 23 [Updated 2013 Feb 28]. In: Pagon RA, Adam MP, Ardinger HH et al., editors. GeneReviews® [Internet].