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2012, Number 2

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Gaceta Médica Espirituana 2012; 14 (2)

Pericentric inversion of chromosome 2. Case presentation

Carbonell TPL, Ibarra TY, Balmaceda FM, Mira FY, Roteta MY

Language: Spanish
References: 6
Page: 130-133
PDF size: 135.56 Kb.


ABSTRACT

Background: The chromosomic inversions may provoke a phenotype affected due to genes interruption or to a variation of activity in them. They are relatively common but under 1 %. The pericentric inversions consist of a ruptura and repair invertid in the chromosomic segment which involve the centrometer. Case presentation: The amniocentesis was performed to a 38 year old patient at 17.2 weeks gestation; the sample was cultured and processed according to standard techniques in our laboratory. Conclusion: The chromosomic study of the objective proved a pericentric inversion of the chromosome 2: 46, XX, inv (2)(p21::q24). This is the first time reported in Cuba this type of chromosomic aberration, being the father the carrier.


REFERENCES

  1. Soriano MT, Méndez LR, Morales ER, Carrillo DM, Bernal CD. Inversión paracéntrica del brazo largo del cromosoma 9. Reporte de un caso. Revista Cubana de Genética Comunitaria. 2008 enero-abril; 2(1): 52-4. Disponible en: http://bvs.sld.cu/revistas/rcgc/v2n1/rcgc08108%20.htm

  2. Rodríguez S, Escurra M, Mesquita M. Pericentric inversion of chromosome 2. Mem. Inst. Investig. Cienc. 2002; 1(1). Available from: http://scielo.iics.una.py/scielo.php?script=sci_arttext&pid=S1812-95282002000100006&lng=es&nrm=iso

  3. Procedimientos Normalizados de Operación 06001. Técnicas para obtención de cromosomas en diagnóstico prenatal. Centro Nacional de Genética Médica. Cuba. 2006 febrero; 01.

  4. Procedimientos Normalizados de Operación 05002. Técnicas para la obtención de cromosomas en diagnóstico de sangre periférica. Centro Nacional de Genética Médica. Cuba. 2004 noviembre; 01.

  5. Ferfouri F, Clement P, Gomes D, Minz M, Amar E, Selva J, et al. Is classic pericentric inversion of chromosome 2 inv (2)(p11q13) associated with an increased risk of unbalanced chromosomes? FertilSteril. 2009 Oct; 92(4):1-4. PubMed PMID: 19665704. Available from: http://hinari-gw.who.int/whalecomac.els-cdn.com/whalecom0/S0015028209014204/1-s2.0-S0015028209014204-main.pdf?_tid=03e5450b3562915fb544961e92fb3145&acdnat=1344607264_e64ffb33e829d5245e5a15d42fd34b52

  6. Sanja V, Feodora S, Renato B, Romana D, Davor J. Pericentric inversion of chromosome 2 in a patient with the empty follicle syndrome: Case report. Human Reproduction. 2005 Sep; 20 (9): 2552-5. Available from: http://humrep.oxfordjournals.org/content/20/9/2552.full




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