Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segment.
作者： H. H. Ardinger , S. R. Path , W. J. Rhead
DOI: 10.1111/J.1399-0004.1987.TB02828.X
关键词:
摘要: A female infant with multiple dysmorphic features and developmental delay was found to have partial duplication of the long arm chromosome 2 deletion 11 derived from a paternal balanced translocation, 46,XY,t(2;11)(q33:q25). Clinically, had both 2q+ 11q- syndromes. The importance considering duplicated deleted segment in unbalanced products resulting familial translocations is emphasized.
sci-hub.se 参考文章(5)
M. Zankl, G. Schwanitz, P. Schmid, H. Zankl, G. Dockter, A. Rodewald, K. D. Zang, K.-P. Grosse, Uta Francke, Distal 2q duplication: Report of two familial cases and an attempt to define a syndrome American Journal of Medical Genetics. ,vol. 4, pp. 5- 16 ,(1979) , 10.1002/AJMG.1320040103
Anthony J. Cousineau, James V. Higgins, Ajovi B. Scott-Emuakpor, Gita Mody, John M. Opitz, Ring-11 chromosome: Phenotype-karyotype correlation with deletions of 11q American Journal of Medical Genetics. ,vol. 14, pp. 29- 35 ,(1983) , 10.1002/AJMG.1320140106
N. R. Dennis, R. L. Neu, R. M. Bannerman, U. Francke, Duplication 2q33→2q37 due to paternal ins (12;2) translocation American Journal of Medical Genetics. ,vol. 1, pp. 271- 277 ,(1978) , 10.1002/AJMG.1320010303
Anne E. O'Hare, Elizabeth Grace, A. T. Edmunds, Deletion of the long arm of chromosome 11 [46, XX, deI(11)(q24.1 qter)] Clinical Genetics. ,vol. 25, pp. 373- 377 ,(2008) , 10.1111/J.1399-0004.1984.TB02007.X
Penchaszadeh Vb, Coco R, Partial deficiency of long arm of chromosome No. 11. Journal de génétique humaine. ,vol. 25, pp. 43- ,(1977)