De Novo Three-Way Chromosome Translocation [46,XX,t(1;20;4) (p32;q12;q32)] in a Patient with Developmental Delay: A Case Report

Öz

Complex chromosome rearrangements (CCRs) involve more than two breakpoints on two or more chromosomes are uncommon occurrences. We report a female with developmental delay with a complex three-way balanced translocation [46,XX,t(1;4;20)(p32;q32;q12)] identified by karyotyping.This paper is the first report of reciprocal translocation involving 1p, 4q and 20q associated with the developmental delay. The developmental delay may be due to the rearrangement of genetic material at these breakpoints and this incident may cause developmental delay

Anahtar Kelimeler

• Chromosomal translocation
• Developmental
• delay

Gelişme Geriliği Olan Bir Hastada Yeni Oluşum Üçlü Kromozom Translokasyonu [46,XX,t(1;20;4)(p32;q12;q32)]: Bir Olgu Sunumu

Öz

Kompleks kromozom düzenlenmeleri iki ya da daha çok kromozomda ikiden fazla kırılma noktasını içeren sık olmayan oluşumlardır. Biz karyotip analizi sonucunda kompleks bir üçlü dengeli translokasyonlu [46,XX,t(1;4;20)(p32;q32;q12)] gelişme geriliği olan bir kız çocuğu rapor ediyoruz. Bu yazı 1p, 4q ve 20q içeren resiprokal translokasyon ile gelişme geriliğinin birlikte olduğu ilk rapordur. Sorun muhtemelen kritik bir ilişkiye sahip bu kırık noktalarında genetik materyalin yeniden düzenlenmesine bağlı olabilir ve bu olay gelişimsel gecikmeye neden olabilir.

Anahtar Kelimeler

• Kromozomal translokasyon
• Gelişme
• geriliği

Kaynakça

1. Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints. Am J Hum Genet 1991;49:995-1013.
2. Kim HG, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, et al. Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. J Med Genet 2005;42:666-72. 10
3. Kikuchi I, Nagamine M, Ueda A, Mihara K, Seita M, Minoda M. Chromosomal translocation t(13;16) in a patient with idiopathic hypogonadotropic hypogonadism. Intern Med 1993;32:465-7.
4. Wenger SL, Steele MW, Boone LY, Lenkey SG, Cummins JH, Chen XQ. “Balanced” karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents. Am J Med Genet 1995;55:47-52.
5. Madan K, Nieuwint AW, van Bever Y. Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocation. Hum Genet 1997;99:806-15.
6. Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 1995;9:132-40.
7. Batista DAS, Pai S, Stetten G. Molecular analysis of a complex chromosomal rearrangement by in situ hybridization. Am J Med Genet 1994;53:255-63.
8. Gorski JL, Kistenmacher ML, Punnett HH, Zackai EH, Emanuel BS. Reproductive risks for carriers of complex chromosome rearrangements: Analysis of 25 families. Am J Med Genet 1988,29:247-61.

9. Buhler EM. Unmasking of heterozygosity by inheriting balanced translocations. Implications for prenatal diagnosis and gene mapping. Ann Genet 1983;26:133-7.
10. Kolehmainen J, Wilkinson R, Lehesjoki AE, Chandler K, Kivitie- Kallio S, Clayton-Smith J, et al. Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. Am J Hum Genet 2004;75:122-7.
11. McDonald-McGinn D, et al. Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 2008;121:404-10.
12. 11. Kikuchi I, Nagamine M, Ueda A, Mihara K, Seita M, Minoda M. Chromosomal translocation t(13;16) in a patient with idiopathic hypogonadotropic hypogonadism. Intern Med 1993;32:465-7.
13. 12. Wenger SL, Steele MW, Boone LY, Lenkey SG, Cummins JH, Chen XQ. “Balanced” karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents. Am J Med Genet 1995;55:47-52.
14. 13. Madan K, Nieuwint AW, van Bever Y. Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocation. Hum Genet 1997;99:806-15.
15. 14. Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 1995;9:132-40.
16. 15. Batista DAS, Pai S, Stetten G. Molecular analysis of a complex chromosomal rearrangement by in situ hybridization. Am J Med Genet 1994;53:255-63.
17. 16. Gorski JL, Kistenmacher ML, Punnett HH, Zackai EH, Emanuel BS. Reproductive risks for carriers of complex chromosome rearrangements: Analysis of 25 families. Am J Med Genet 1988,29:247-61.
18. 17. Buhler EM. Unmasking of heterozygosity by inheriting balanced translocations. Implications for prenatal diagnosis and gene mapping. Ann Genet 1983;26:133-7.
19. 18. Kolehmainen J, Wilkinson R, Lehesjoki AE, Chandler K, KivitieKallio S, Clayton-Smith J, et al. Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. Am J Hum Genet 2004;75:122-7.