TY - JOUR T1 - Pericentric inversion in chromosome 2(p11q13) in two cases AU - Celep, Figen AU - Karagüzel, Ahmet PY - 2013 DA - March JF - EASTERN JOURNAL OF MEDICINE PB - Van Yüzüncü Yıl Üniversitesi WT - DergiPark SN - 1301-0883 SP - 35 EP - 37 VL - 13 IS - 1-2 LA - en AB - Abstract. Pericentric inversion of chromosome 2 was detected in two cases with cytogenetic analyses. Chromosome analyses were performed on routinely cultured peripheral blood lymphocytes. Slides were processed for trypsin-Giemsa banding. This study, and data from the literature, suggests that the pericentric inversion of chromosome 2 is generally considered a benign familial variant without significant reproductive consequences. Generally, inherited phenotypic or developmental abnormality and, even in a rare de novo form, has been found to be benign. According to the literature, the implications for management in these cases are discussed.Key words: Pericentric inversion chromosome 2 KW - Pericentric inversion chromosome 2 CR - 1. Schinzel A. Catalogue of unbalanced chromosome aberrations in man, 2nd Ed, Walter de Gruyter, New York, 2001. CR - 2. Hysert M, Bruyère H, Côté GB, et al. Prenatal cytogenetic assessment and inv (2) (p11.2q13). Prenat Diagn 2006; 26: 810-813. CR - 3. Hengstschlager M, Mittermayer C, Prusa A.R, et al. Prenatal diagnosis of a de novo inversion of chromosome (2) (p21q11). Arch Gynecol Obstet 2003; 268: 230-232. CR - 4. Thomas NS, Bryant V, Maloney V, et al. Investigation of the origins of human autosomal inversions. Hum Genet 2008; 123: 607-616. CR - 5. Gardener R J, Sutherland G R. Chromosome Abnormalities and Genetic Counseling, 2nd Ed, Oxford University Press, New York, 1996, pp. 139- 145. CR - 6. Kaiser P. Pericentric inversions: problems and significance for clinical genetics, Hum Genet 1984; 68: 1-47. CR - 7. Djalali M, Steinbach P, Bullerdick J, et el. The significance of pericentric inversions of chromosome 2. Hum Genet 1986; 72: 32-36. CR - 8. MacDonald IM, Cox DM. Inversion of chromosome 2 (p11q13): Frequency and implications for genetic counseling. Hum Genet 1985; 69: 281-283. CR - 9. Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 1991; 49: 995-1013. CR - 10. Ferfouri F, Clement P, Gomes DM, et al. Is classic pericentric inversion of chromosome 2 inv(2)(p11q13) associated with an increased risk of unbalanced chromosomes? Fertil Steril 2009 Aug 7. (Epub ahead of print). CR - 11. Bugge M, Bruun-Petersen G, Brøndum-Nielsen K, et al. Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man. J Med Genet 2000; 37: 858-865. CR - 12. Srebniak M, Wawrzkiewicz A, Wiczkowski A, et al. Subfertile couple with inv(2),inv(9) and 16qh+. J Appl Genet. 2004; 45: 477-479. CR - 13. Baccichetti C, Lenzini E, Peserico A, et al. Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p11-q13) segment of chromosome 2. Clin Genet 1980; 18: 402-407. CR - 14. Leonard C, Hazael-Massieux P, Bocquet L, et al. Inversion pericentrique inv(2)(p11q13) dans les families non apparentees. Humangenetik 1975; 28 : 121-128. CR - 15. Phillips R.B: Pericentric inversions inv(2) (p11q13) and inv(2) (p13q11) in 2 unrelated families. J Med Genet 1978; 15: 388-390. CR - 16. Fickelscher I, Liehr T, Watts K, et al. The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity. Am J Hum Genet 2007; 81: 847-856. CR - 17. Richter S, Lockwood B, Lockwood D, Allanson J. Abnormal chromosome complement resulting from a familial inversion of chromosome 2. J Med Genet 1989; 26: 725-729. CR - 18. Lacbawan FL, White BJ, Anguiano A, et al. Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin. Am J Med Genet 1999; 87: 139-142. CR - 19. Prasher VP, Krishnan VH, Clarke DJ, Maliszewska CT, Corbett JA. Deletion of chromosome 2 (p11- p13): case report and review. J Med Genet 1993; 30: 604-606. CR - 20. Los FJ, Van Hemel JO, Jacobs HJ, et al. De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data. J Med Genet 1994: 31: 72-73. CR - 21. Wenger SL, McPherson EW. Interstitial deletion 2(p11.2p13): a rare chromosomal abnormality. Clin Genet 1997: 52; 61-62. CR - 22. Magee AC, Humphreys MW, McKee S, et al. De novo direct duplication 2 (p12-->p21) with paternally inherited pericentric inversion 2p11.2 2q12.2. Clin Genet 1998; 54: 65-69. UR - https://dergipark.org.tr/tr/pub/ejm/issue//72374 L1 - https://dergipark.org.tr/tr/download/article-file/62005 ER -