Pericentric inversion in chromosome 2(p11q13) in two cases

Yıl 2008, Cilt: 13 Sayı: 1-2, 35 - 37, 14.01.2013

Figen Celep Ahmet Karagüzel

Öz

 

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

 

 

 

Anahtar Kelimeler

Pericentric inversion chromosome 2

Kaynakça

• 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.