Pericentric inversion in chromosome 2(p11q13) in two cases

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

Keywords:

Pericentric inversion chromosome 2,

PDF

___

1. Schinzel A. Catalogue of unbalanced chromosome aberrations in man, 2nd Ed, Walter de Gruyter, New York, 2001.
2. Hysert M, Bruyère H, Côté GB, et al. Prenatal cytogenetic assessment and inv (2) (p11.2q13). Prenat Diagn 2006; 26: 810-813.
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.
4. Thomas NS, Bryant V, Maloney V, et al. Investigation of the origins of human autosomal inversions. Hum Genet 2008; 123: 607-616.
5. Gardener R J, Sutherland G R. Chromosome Abnormalities and Genetic Counseling, 2nd Ed, Oxford University Press, New York, 1996, pp. 139- 145.
6. Kaiser P. Pericentric inversions: problems and significance for clinical genetics, Hum Genet 1984; 68: 1-47.
7. Djalali M, Steinbach P, Bullerdick J, et el. The significance of pericentric inversions of chromosome 2. Hum Genet 1986; 72: 32-36.
8. MacDonald IM, Cox DM. Inversion of chromosome 2 (p11q13): Frequency and implications for genetic counseling. Hum Genet 1985; 69: 281-283.
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.
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).
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.
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.
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.
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.
15. Phillips R.B: Pericentric inversions inv(2) (p11q13) and inv(2) (p13q11) in 2 unrelated families. J Med Genet 1978; 15: 388-390.
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.
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.
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.
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.
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.
21. Wenger SL, McPherson EW. Interstitial deletion 2(p11.2p13): a rare chromosomal abnormality. Clin Genet 1997: 52; 61-62.
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.