Pericentric inversion in chromosome 2(p11q13) in two cases
Abstract
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
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.
Ayrıntılar
Birincil Dil
İngilizce
Konular
-
Bölüm
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Yayımlanma Tarihi
14 Ocak 2013
Gönderilme Tarihi
14 Ocak 2013
Kabul Tarihi
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Yayımlandığı Sayı
Yıl 2008 Cilt: 13 Sayı: 1-2