Malformations in a child with dup (7 pter‐p15.1) and del (7 q36‐qter) as a result of familial pericentric inversion

作者: Jeanette C. Ramer , Philip N. Mowrey , Roger L. Ladda

DOI: 10.1111/J.1399-0004.1991.TB03056.X

关键词:

摘要: … We describe a child with multiple anomalies and severe retardation with dup 7pter-… del 7q36qter as a result of a parental pencentric inversion of chromosome 7. The pericentric inversion …

参考文章(27)
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
E. L. Harris, R. S. Wappner, C. G. Palmer, B. Hall, N. Dinno, M. R. Seashore, W. R. Breg, 7q deletion syndrome (7q32→7qter) Clinical Genetics. ,vol. 12, pp. 233- 238 ,(2008) , 10.1111/J.1399-0004.1977.TB00932.X
J. Gabarrón, G. Glover, A. Jiménez, P. Salas, J. Pérez-Bryan, M. J. Parra, Chromosomal imbalance in the offspring of translocation carriers involving 7p. Further contribution with three cases to the partial trisomy 7p phenotype. Clinical Genetics. ,vol. 33, pp. 211- 219 ,(2008) , 10.1111/J.1399-0004.1988.TB03439.X
I. W. Lurie, H. G. Ilyina, L. V. Podleschuk, L. B. Gorelik, D. V. Zaletajev, Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis American Journal of Medical Genetics. ,vol. 35, pp. 286- 288 ,(1990) , 10.1002/AJMG.1320350229
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
Stuart Schwartz, Joann Meekins, Susan R. Panny, Chen-Chih J. Sun, Maimon M. Cohen, John M. Opitz, Cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→q32:)] American Journal of Medical Genetics. ,vol. 15, pp. 141- 144 ,(1983) , 10.1002/AJMG.1320150119