Chromosomal imbalance in the offspring of translocation carriers involving 7p. Further contribution with three cases to the partial trisomy 7p phenotype.
作者： J. Gabarrón , G. Glover , A. Jiménez , P. Salas , J. Pérez-Bryan
DOI: 10.1111/J.1399-0004.1988.TB03439.X
关键词:
摘要: Five families with balanced translocations involving 7p are reported. Three girls from two of these presented several congenital malformations and partial trisomy 7p. A comparison is made their phenotype other reported cases.
sci-hub.se 参考文章(8)
Judith P Willner, Sophie Paciuc, Steluta Criatian, Lillian Y F Hsu, Ramon Murphy, Kurt Hirschhorn, THE 7p PARTIAL TRISOMY SYNDROME Pediatric Research. ,vol. 11, pp. 530- 530 ,(1977) , 10.1203/00006450-197704000-00959
Jorge J. Yunis, Jeffrey R. Sawyer, David W. Ball, The characterization of high-resolution G-banded chromosomes of man Chromosoma. ,vol. 67, pp. 293- 307 ,(1978) , 10.1007/BF00285963
C. Rockman-Greenberg, M. Ray, J. A. Evans, N. Canning, J. L. Hamerton, Homozygous Robertsonian translocations in a fetus with 44 chromosomes Human Genetics. ,vol. 61, pp. 181- 184 ,(1982) , 10.1007/BF00296437
C. M. Moore, R. A. Pfeiffer, A. P. Craig-Holmes, C. I. Scott, M. Meisel-Stosiek, Partial trisomy 7p in two families resulting from different balanced translocations. Clinical Genetics. ,vol. 21, pp. 112- 121 ,(2008) , 10.1111/J.1399-0004.1982.TB00746.X
Alessandra Carnevale, Sara Frías, Victoria del Castillo, Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp(7;14)(p11;p11). Clinical Genetics. ,vol. 14, pp. 202- 206 ,(2008) , 10.1111/J.1399-0004.1978.TB02131.X
Marvin Miller, Genevieve Kaufman, George Reed, Robert Bilenker, Albert Schinzel, Uta Francke, Familial, Balanced Insertional Translocation of Chromosome 7 Leading to Offspring with Deletion and Duplication of the Inserted Segment, 7p15 → 7p21 American Journal of Medical Genetics. ,vol. 4, pp. 323- 332 ,(1979) , 10.1002/AJMG.1320040403
Elspeth McPherson, Judith G. Hall, Robert Hickman, Bradley T. Gong, Thomas H. Norwood, Holger Hoehn, Chromosome 7 short arm deletion and craniosynostosis. A 7p-syndrome. Human Genetics. ,vol. 35, pp. 117- 123 ,(1976) , 10.1007/BF00295627
A C Berry, J Honeycombe, S J Macoun, Two children with partial trisomy for 7p. Journal of Medical Genetics. ,vol. 16, pp. 320- 321 ,(1979) , 10.1136/JMG.16.4.320