Structural Chromosome Rearrangements

作者: Kathleen Kaiser-Rogers , Kathleen Rao

DOI: 10.1385/1-59259-833-1:165

关键词: Robertsonian translocationWilliams syndromeGeneticsChromosomeInfinite numberRing chromosomeBiologyChromosomal inversionChromosome 9

摘要: The subject of structural chromosome rearrangements is an immense one, to which entire catalogs have been devoted. Indeed, there are theoretically almost infinite number ways in chromosomes can reconfigure themselves from the normal 23-pair arrangement with we familiar. Although tend think resulting terms pathology, some fairly innocuous. In fact, a few such benign (such as certain pericentric inversions 9) seen frequently enough be considered polymorphic variants no clinical significance.

参考文章(186)
J. O. Van Hemel, H. J. Eussen, Interchromosomal insertions. Identification of five cases and a review. Human Genetics. ,vol. 107, pp. 415- 432 ,(2000) , 10.1007/S004390000398
A Schinzel, I Lorda-Sanchez, F Binkert, M Maechler, A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation. American Journal of Human Genetics. ,vol. 49, pp. 1034- 1040 ,(1991)
Dorothy Warburton, DE NOVO STRUCTURAL REARRANGEMENTS: IMPLICATIONS FOR PRENATAL DIAGNOSIS Clinical Genetics#R##N#Problems in Diagnosis and Counseling. pp. 63- 75 ,(1982) , 10.1016/B978-0-12-751860-2.50012-7
S. E. Antonarakis, J. M. Hertz, G. Stetten, G. Stetten, F. Greenberg, M. Mikkelsen, M. J. McGinniss, M. J. McGinniss, M. B. Petersen, Z. Laca, A. Johnson, L. Tranebjaerg, A. A. Schinzel, H. H. Kazazian, E. Engel, H. Boman, S. R. Patil, Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21. American Journal of Human Genetics. ,vol. 50, pp. 15- 28 ,(1992)
Cote Gb, Katsantoni A, Deligeorgis D, The cytogenetic and clinical implications of a ring chromosome 2. Annales De Genetique. ,vol. 24, pp. 231- ,(1981)
S E Antonarakis, P A Adelsberger, A A Schinzel, F Binkert, M B Petersen, Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations. American Journal of Human Genetics. ,vol. 47, pp. 968- 972 ,(1990)
P. Kalitsis, E. Earle, K. H. A. Choo, L. G. Shaffer, C. Mcquillan, S. Dale, Identification of DNA sequences flanking the breakpoint of human t(14q21q) Robertsonian translocations. American Journal of Human Genetics. ,vol. 50, pp. 717- 724 ,(1992)
R Galanello, H Ayyub, A Cao, C F Craddock, J Flint, A Villegas, W G Wood, H J Williams, Higgs, D P Bentley, Healing of broken human chromosomes by the addition of telomeric repeats. American Journal of Human Genetics. ,vol. 55, pp. 505- 512 ,(1994)
L.E. Voullaire, H.R. Slater, V. Petrovic, K.H.A. Choo, A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: activation of a latent centromere? American Journal of Human Genetics. ,vol. 52, pp. 1153- 1163 ,(1993)
J Wagstaff, M Hemann, A familial "balanced" 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings. American Journal of Human Genetics. ,vol. 56, pp. 302- 309 ,(1995)