Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.
作者： Chih-Ping Chen , Shuan-Pei Lin , Chyi-Chyang Lin , Yann-Jang Chen , Schu-Rern Chern
DOI: 10.1002/AJMG.A.31329
关键词: Gene duplication 、 Sotos syndrome 、 Gigantism 、 Brachydactyly 、 Genetics 、 Aneuploidy 、 Biology 、 Microcephaly 、 Short stature 、 Macrocephaly
摘要: … In this report, we present a girl with a de novo direct duplication of 5q35.2 … de novo tandem duplications of 18 different autosomal chromosome segments found that two-thirds of the de …
sci-hub.se 参考文章(31)
A. Kriplani, N. Banerjee, V. Jobanputra, K. Kucheria, Mosaic partial trisomy of chromosome 5 (q33-q ter) associated with fetal polycystic kidneys. Acta geneticae medicae et gemellologiae. ,vol. 47, pp. 125- 129 ,(1998) , 10.1017/S0001566000000295
R. A. Pfeiffer, E. Kessel, Tandem duplication (5q13→22) in a mentally deficient girl Human Genetics. ,vol. 52, pp. 217- 220 ,(1979) , 10.1007/BF00271576
KA Rauen, SM Bitts, L Li, M Golabi, PD Cotter, Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review. Clinical Genetics. ,vol. 60, pp. 366- 370 ,(2001) , 10.1034/J.1399-0004.2001.600508.X
J.F. Sanchez-Garcia, C.E.M. de Die-Smulders, J.W. Weber, A.G.P. Jetten, W.H. Loneus, A.J.H. Hamers, J.J.M. Engelen, De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH. American Journal of Medical Genetics. ,vol. 100, pp. 56- 61 ,(2001) , 10.1002/1096-8628(20010415)100:1<56::AID-AJMG1207>3.0.CO;2-S
Larry A. Jones, Diane K. Jordan, Kutay Taysi, Arnold W. Strauss, Joseph K. Toth, Partial duplication of the long arm of chromosome 5: a case due to balanced paternal translocation and review of the literature. Human Genetics. ,vol. 51, pp. 37- 42 ,(1979) , 10.1007/BF00278289
Anita Rauch, Maike Beese, Ertan Mayatepek, Helmut-Günther Dörr, Dieter Wenzel, André Reis, Udo Trautmann, A novel 5q35.3 subtelomeric deletion syndrome. American Journal of Medical Genetics Part A. ,vol. 121, pp. 1- 8 ,(2003) , 10.1002/AJMG.A.20173
Donna M. Martin, Margaret H. Mindell, Christine A. Kwierant, Thomas W. Glover, Jerome L. Gorski, Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a Maternal (20;5) balanced insertion American Journal of Medical Genetics. ,vol. 116, pp. 268- 271 ,(2003) , 10.1002/AJMG.A.10064
Moh-Ying Yip, John Kemp, Nils Hanson, Meredith Wilson, Stuart Purvis-Smith, P. R. L. Lam-Po-Tang, Duplication of 5q11.2----q13.1 from a familial (5;20) balanced insertion. American Journal of Medical Genetics. ,vol. 33, pp. 220- 223 ,(1989) , 10.1002/AJMG.1320330215
Mark I. Evans, Beverly J. White, Stephen G. Kent, Michael A. Levine, Sondra W. Levin, John W. Larsen, Balanced rearrangement of chromosomes 2, 5, and 13 in a family with duplication 5q and fetal loss. American Journal of Medical Genetics. ,vol. 19, pp. 783- 790 ,(1984) , 10.1002/AJMG.1320190419
Shuan-Yow Li, Lisa H. Gibson, Kevin Gomez, Barbara R. Pober, Teresa L. Yang-Feng, Familial dup(5)(q15q21) associated with normal and abnormal phenotypes. American Journal of Medical Genetics. ,vol. 75, pp. 75- 77 ,(1998) , 10.1002/(SICI)1096-8628(19980106)75:1<75::AID-AJMG15>3.0.CO;2-P