2018, Número 4
<< Anterior Siguiente >>
MEDICC Review 2018; 20 (4)
Antenatal diagnosis of de novo balanced structural chromosome aberrations in Latin America
Méndez-Rosado LA, Quiñones-Maza O, Vaglio A, Quadrelli R, Sánchez-Peñarate D, Soriano-Torres M, Cerrillo-Hinojosa M, Escobedo-Aguirre F, Gutiérrez-Nájar A, Venegas-Barbosa P, Barrios-Martinez A, Hechavarría-Estenoz D, Carbonell-de la Torre P, Pimentel-Benitez HI, González-Salé O, Hernández-Gil J, de la Torre-Santos ME, Alonso-García Y, Cedeño-Aparicio N, Torriani-Mendoza P, Morales-Rodríguez E, Martín-García D, Cuétara-Lugo E, González-Domínguez N, Hu P
Idioma: Ingles.
Referencias bibliográficas: 55
Paginas: 27-34
Archivo PDF: 100.15 Kb.
RESUMEN
Sin resumen.
REFERENCIAS (EN ESTE ARTÍCULO)
Gadner RJM, Sutherland GR, Shaffer LG. Basic concepts. In: Chromosome Abnormalities and Genetic Counseling. 4th ed. New York: Oxford University Press Inc.; 2011 Nov 11. p. 3–64.
Bugge M, Bruun-Petersen G, Brondum-Nielsen K, Friedrich U, Hansen J, Jensen G, et al. Disease associated balanced chromosome rearrangements: a resource for large scale genotype–phenotype delineation in man. J Med Genet [Internet]. 2000 Nov [cited 2018 Jun 5];37(11):858–65. Available from: https://www .ncbi.nlm.nih.gov/pmc/articles/PMC1734480/
Le Scouarnec S, Gribble SM. Characterizing chromosome rearrangements: recent technical advances in molecular cytogenetics. Heredity [Internet]. 2012 [cited 2018 Jun 5];108:75–85. Available from: https://www.nature.com/articles/ hdy2011100
Feenstra I, Hanemaaijer N, Sikkema-Raddatz B, Yntema H, Dijkhuizen T, Lugtenberg D, et al. Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis. Eur J Hum Genet [Internet]. 2011 Nov [cited 2018 Jun 5];19(11):1152–60. Available from: https:// www.ncbi.nlm.nih.gov/pmc/articles/PMC3198145/
Warburton D. D e novo balanced chromosome rearrangements and extra marker chromosomes identifi ed at prenatal diagnosis: clinical signifi cance and distribution of breakpoints. Am J Hum Genet [Internet]. 1991 Nov [cited 2018 Jun 5];49(5):995–1013. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/ PMC1683246/
Tishkoff SA, Verrelli BC. Patterns of human genetic diversity: implications for human evolutionary history and disease. Annu Rev Genomics Hum Genet. 2003;4:293–340.
Giardino D, Corti C, Ballarati L, Colombo D, Sala E, Villa N, et al. De novo balanced chromosome rearrangements in prenatal diagnosis. Prenat Diagn [Internet]. 2009 Mar [cited 2018 Jun 5];29(3):257–65. Available from: https://obgyn .onlinelibrary.wiley.com/doi/abs/10.1002/pd.2215
Sheth F, Rahman M, Liehr T, Desai M, Patel B, Modi C, et al. Prenatal screening of cytogenetic anomalies— a Western Indian experience. BMC Pregnancy Childbirth [Internet]. 2015 [cited 2018 Jun 5];15:90. Available from: https://www.ncbi .nlm.nih.gov/pmc/articles/PMC4396805/
Zhang HG, Zhang XY, Zhang HY, Tian T, Xu SB, Liu RZ. Balanced reciprocal translocation at amniocentesis: cytogenetic detection and implications for genetic counseling. Genet Mol Res. 2016 Aug 19;15(3). DOI: 10.4238/ gmr.15038556.
Cheng CP, Wu CP, Lin CJ, Su YN, Chern SR, Tsai FJ, et al. Balanced reciprocal translocations detected at amniocentesis. Taiwan J Obstet Gynecol [Internet]. 2010 Dec [cited 2018 Jun 5];49(4):455–67. Available from: https:// www.sciencedirect.com/science/article/pii/ S1028455910600988?via%3Dihub
Cheng CP, Chern SR, Lee CC, Lin CC, Li YC, Hsieh LJ, et al. Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2),dup(5)(q34q34), del(7) (p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements. Prenat Diagn [Internet]. 2006 Feb [cited 2018 Jun 5];26(2):138–46. Available from: https://obgyn .onlinelibrary.wiley.com/doi/full/10.1002/pd.1369
Sinnerbrink IB, Sherwen A, Meiser B, Halliday J, Amor DJ, Waters E, et al. Long-term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement. Prenat Diagn [Internet]. 2013 Sep [cited 2018 Jun 6];33(9):831–8. Available from: https://obgyn.onlinelibrary.wiley.com/doi/ abs/10.1002/pd.4131
Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, et al. Genetic structure of human populations. Science. 2002;298(23):81–5.
Méndez-Rosado LA, Hernández-Pérez G, Palencia-Céspedes D, Quiñones-Maza O, Barrios-Martínez A, Suárez-Mayedo U. [Structural aberration mosaicism, incidence and prenatal consequences]. Rev Cubana Genet Comunit [Internet]. 2007 [cited 2018 Jun 6];1(1):34–6. Available from: http://bvs.sld.cu/ revistas/rcgc/v1n1/gco06107.pdf. Spanish.
Quiñones-Maza OL, Méndez-Rosado LA, Quintana-Aguilar J, Suárez-Mayedo U, García-Rodríguez M, Barrios-Martínez A, et al. [Structural chromosomal rearrangement for prenatal and postnatal cytogenetic studies reference to types and carrier sex]. Rev Cubana Obstet Ginecol [Internet]. 2015 [cited 2018 Jun 6];41(1):10–3. Available from: http://bvs .sld.cu/revistas/gin/vol41_1_15/gin02115.htm. Spanish.
Cerrillo-Hinojosa M, Yerena de Vega MC, González-Panzzi ME, Godoy H, Galicia J, Gutiérrez Nájar A. [Genetic amniocentesis in high-risk populations. Experience in 3081 cases]. Ginecol Obstet Mex. 2009 Apr;77(4):173–82. Spanish.
Grether-González P, Cámara-Polanco V, Ulloa- Avilés V, Salas-Labadia C, Almanza-Márquez R, Kogan-Frenk S, et al. [Prenatal diagnosis for amniocentesis. Clinical and cytogenetic experience in 1,500 cases]. Ginecol Obstet Mex. 2010 Sep;78(9):493–503. Spanish.
Fortes-Lima C, Bybjerg-Grauholm J, Marin- Padrón LC, Gomez-Cabezas EJ, Bækvad- Hansen M, Hansen CS, et al. Exploring Cuba–s population structure and demographic history using genome-wide data. Sci Rep [Internet]. 2018 Jul 30 [cited 2018 Aug 6];8(1):11422. Available from: http://dx.doi.org/10.1038/s41598 -018-29851-3
Mao X, Bigham AW, Mei R, Gutiérrez G, Weiss KM, Brutsaert TD, et al. A genome wide admixture mapping panel for Hispanic/Latino populations. Am J Hum Genet [Internet]. 2007 Jun [cited 2018 Jun 6];80(6):1171–8. Available from: https:// ac.els-cdn.com/S0002929707610349/1-s2.0 -S0002929707610349-main.pdf?_tid=5d84abe6 -9fe7-4849-9cf6-a4108a8cf85e&acdnat=15283 13968_95eb00e34a8b4c34a65b45cf17d3d492
Tian C, Hinds DA, Shigeta R, Adler SG, Lee A, Pahl MV, et al. A genome wide single nucleotide polymorphism panel for Mexican American admixture mapping. Am J Hum Genet [Internet]. 2007 Jun [cited 2018 Jun 6];80(6):1014–23. Available from: https:// ac.els-cdn.com/S0002929707610210/1-s2.0 -S0002929707610210-main.pdf?_tid=a2beaa5d -4de2-4616-84c2-10d5ef8c6dde&acdnat=15283 13865_4d868de9496423e94d2e29048cbc002c
Hoggart CJ, Shriver MD, Kittles RA, Clayton DG, McKeigue PM. Design and analysis of admixture mapping studies. Am J Hum Genet [Internet]. 2004 May [cited 2018 Jun 6];74(5):965–78. Available from: https:// ac.els-cdn.com/S0002929707643626/1-s2.0 -S0002929707643626-main.pdf?_tid=e4c75ef1-002c-4fc1-a527 -cf35a7736b5a&acdnat=1528313763_d3ba64a 6bc1e6c63a167e8fd7982d4e7
Wang S, Lewis CM, Jakobsson M, Ramachandran S, Ray N, Bedoya G, et al. Genetic variation and population structure in Native Americans. PLoS Genet [Internet]. 2007 Nov [cited 2018 Jun 6];3(11):e185. Available from: https://www.ncbi .nlm.nih.gov/pmc/articles/pmid/18039031/
Barch MJ, Kanutsen T, Spurbeck JL; Association of Genetic Technologists. AGT Cytogenetics Laboratory Manual. 2nd ed. New York: Raven Press; 1991. 666 p.
Shaffer LG, Tommerup N, editors. ISCN. An International System for Human Cytogenetic Nomenclature. Basel (CH): S Karger; 2005 Dec 1.130p.
Nicolaides K, Shawwa L, Brizot M. Ultrasonographically detectable markers of fetal chromosomal defects. Ultrasound Obstet Gynecol [Internet]. 1993 Jan 1 [cited 2018 Jun 6];3(1):56–9. Available from: https://obgyn .onlinelibrary.wiley.com/doi/epdf/10.1046/j.1469 -0705.1993.03010056.x
Hysert M, Bruyère H, Côté GB, Dawson AJ, Dolling JA, Fetni R, et al. Prenatal cytogenetic assessment and inv(2)(p11.2q13). Prenat Diagn [Internet]. 2006 Jul 5 [cited 2018 Jun 7];26(9):810–13. Available from: https://obgyn .onlinelibrary.wiley.com/doi/epdf/10.1002/pd.1508
Fickelscher I, Liehr T, Watts K, Bryant V, Barber JCK, Heidemann S, et al. The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity. Am J Hum Genet [Internet]. 2007 Oct [cited 2018 Jun 7];81(4):847–56. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/ PMC2227935/pdf/AJHGv81p847
Stoll C, Flori E, Macler J, Renaud R. Prenatal diagnosis and postnatal follow-up of an abnormal child with two de novo apparently balanced translocations. Hum Genet. 1979 Mar;47(2):221–4.
Bogart MH, Bradshaw CL, Jones OW, Schanberger JE. Prenatal diagnosis and followup of a child with a complex chromosome rearrangement. J Med Genet [Internet]. 1986 Apr [cited 2018 Jun 7];23(2):180–3. Available from: http://jmg.bmj.com/content/jmedgenet/23/2/180 .full.pdf
Kim HJ, Perle MA, Bogosian V, Greco A. Prenatal diagnosis of a de novo complex chromosomal rearrangement involving four chromosomes. Prenat Diagn. 1986 May–Jun;6(3):211–6.
Köhler J, Brackertz M, Feige A, Grimm T. Prenatal diagnosis of a complex, balanced rearrangement of chromosomes 7 and 14 in a healthy child with a history of preconceptual X-ray exposure. Prenat Diagn. 1986 Sep–Oct;6(5):389–90.
Pruggmayer M, Zoll B, Leipoldt M, Thies U. Prenatal diagnosis and postnatal follow-up of a child with two de novo unrelated balanced reciprocal translocations. Prenat Diagn. 1990 May;10(5):337–42.
Iqbal M, Ramadan S, Ali F, Kurdi W. Complex de novo cryptic subtelomeric rearrangements in a fetus with multiple ultrasonographic abnormalities and a normal karyotype at amniocentesis. Prenat Diagn. 2005;25:1142–9.
Batista DAS, Tuck-Muller CM, Martínez JE, Kearns WG, Pearson PL, Stetten G. A complex chromosomal rearrangement detected prenatally and studied by fl uorescence in situ hybridization. Hum Genet. 1993 Sep;92(2):117–21.
Sikkema-Raddatz B, Sijmons RH, Tan- Sindhunata MB, van der Veen AY, Brunsting R, de Vries B, et al. Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case. Prenat Diagn. 1995 May;15(5):467–73.
Cotter PD, Caggana M, Willner JP, Babu A, Desnick RJ. Prenatal diagnosis of a fetus with two balanced de novo chromosome rearrangements. Am J Med Genet. 1996 Dec 11;66(2):197–9.
Mercier S, Fellmann F, Cattin J, Bresson JL. Molecular analysis by fl uorescence in situ hybridization of a prenatally detected de novo complex chromosomal rearrangement t(2q;3p;4q;13q). Prenat Diagn. 1996 Nov;16(11):1046–50.
Ruiz C, Grubs RE, Jewett T, Cox-Jones K, Abruzzese E, Pettenati MJ, et al. Prenatally diagnosed de novo apparently balanced complex chromosome rearrangements: two new cases and review of the literature. Am J Med Genet. 1996 Aug 23;64(3):478–84.
Calabrese G, Morizio E, Franchi PG. De novo complex chromosome rearrangement detected by fl uorescence in situ hybridization on amniotic fl uid cells. Am J Med Genet. 1998 Feb 3;75(4):414–5.
Phelan MC, Blackburn W, Rogers RC, Crawford EC, Cooley NR Jr, Schröck E, et al. FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16. Prenat Diagn. 1998 May 4;18(11):1174–80.
Hastings RJ, Watson SG, Chitty LS. Prenatal fi ndings of a fetus with mosaicism for two balanced de novo chromosome rearrangements. Prenat Diagn. 1999 Jan;19(1):77–80.
Peschka B, Leygraaf J, Hansmann D, Hansmann M, Schröck E, Ried T, et al. Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fl uorescence in situ hybridization and spectral karyotyping. Prenat Diagn. 1999 Dec;19(12):1143–9.
Balícek P, Jüttnerová V, Jarosová M, Fialová J, Fiedler Z, Kolmanová J. [Prenatal diagnosis of de novo complex balanced chromosome rearrangements involving in chromosomes 3, 4, and 13]. Cas Lek Cesk. 2001 Mar 1;140(4):122–4. Czech.
Vasilevska M, Ivanoska E, Kubelka K, Sukarova- Angelovska E, Dimeska G. The incidence and type of chromosomal translocations from prenatal diagnosis of 3800 patients in the Republic of Macedonia. Balkan J Med Genet [Internet]. 2013 Dec [cited 2018 Jun 7];16(2):23–8. Available from: https://www.ncbi.nlm.nih.gov/ pmc/articles/PMC4001411/pdf/bjmg-16-02-23 .pdf
Stankiewicz P, Lupski JR. Genome architecture, rearrangements and genomic disorders. Trends Genet. 2002 Feb;18(2):74–82.
Kato T, Kurahashi H, Emanuel BS. Chromosomal translocations and palindromic AT-rich repeats. Curr Opin Genet Dev [Internet]. 2012 Jun [cited 2018 Jun 7];22(3):221–8. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/ PMC3378763/pdf/nihms362914.pdf
Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, et al. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases. Eur J Med Genet. 2009 Sep–Oct;52(5):291–6.
Feuk L. Inversion variants in the human genome: role in disease and genome architecture. Genome Med [Internet]. 2010 Feb 12 [cited 2018 Jun 7];2(2):11. Available from: https://www.ncbi .nlm.nih.gov/pmc/articles/PMC2847702/pdf/ gm132.pdf
Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, et al. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet [Internet]. 2017 Jan [cited 2018 Jun 7];49(1):36– 45. Available from: https://www.ncbi.nlm.nih.gov/ pmc/articles/PMC5307971/
Ordulu Z, Kammin T, Brand H, Pillalamarri V, Redin CE, Collins RL, et al. Structural chromosomal rearrangements require nucleotide-level resolution: lessons from nextgeneration sequencing in prenatal diagnosis. Am J Hum Genet [Internet]. 2016 Nov 3 [cited 2018 Jun 7];99(5):1015–33. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/ PMC5097935/pdf/main.pdf
Mrasek K, Schoder C, Teichmann AC, Behr K, Franze B, Wilhelm K, et al. Global screening and extended nomenclature for 230 aphidicolin inducible fragile sites, including 61 yet unreported ones. Int J Oncol. 2010 Apr;36(4):929–40.
Liehr T, Kosayakova N, Schröder J, Ziegler M, Kreskowski K, Pohle B, et al. Evidence for correlation of fragile sites and chromosomal breakpoints in carriers of constitutional balanced chromosomal. Balkan J Med Genet [Internet]. 2011 [cited 2018 Jun 7];14(2):13–6. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/ PMC3776699/pdf/bjmg-14-02-13.pdf
Bastos-Rodrigues L, Pimenta JR, Pena SDJ. The genetic structure of human populations studied through short insertion-deletion polymorphisms. Ann Human Genet [Internet]. 2006 [cited 2018 Jun 7];70:658–65. Available from: https:// onlinelibrary.wiley.com/doi/epdf/10.1111/j.1469 -1809.2006.00287.x
Quadrelli A, Vaglio A, Quadrelli R, Mechoso B, Fan YS, Huang T. High density array comparative genomic hybridization analysis and follow-up of a child with de novo complex chromosome rearrangement detected prenatally. Prenat Diagn [Internet]. 2007 Oct [cited 2018 Jun 7];27(10):982–3. Available from: https://obgyn .onlinelibrary.wiley.com/doi/epdf/10.1002/pd.1831
Gadner RJM, Sutherland GR, Shaffer LG. Parent with chromosomal abnormality. In: Chromosome Abnormalities and Genetic Counseling. 4th ed. New York: Oxford University Press Inc.; 2011. p. 212–20.