Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome

作者: Twila M. Yobb , Martin J. Somerville , Lionel Willatt , Helen V. Firth , Karen Harrison

DOI: 10.1086/429841

关键词:

摘要: 22q11.2 microduplications of a 3-Mb region surrounded by low-copy repeats should be, theoretically, as frequent the deletions this region; however, few have been reported. We show that phenotype these patients with is extremely diverse, ranging from normal to behavioral abnormalities multiple defects, only some which are reminiscent deletion syndrome. This diversity will make ascertainment difficult and necessitate rapid-screening method. demonstrate utility four different screening methods. Although all techniques give unique information, efficiency real-time polymerase chain reaction allowed discovery two in series 275 females who tested negative for fragile X syndrome, thus widening phenotypic diversity. Ascertainment X–negative cohort was twice screened deletion. also report first patient triplication patient's mother carries microduplication. strongly recommend other family members be tested, since we found several phenotypically parents were carriers chromosomal abnormality.

参考文章(25)
Robert J. Shprintzen, Michael L. Lewin, Rosalie B. Goldberg, Ravelo V. Argamaso, Dennison Young, Eugene J. Sidoti, Milton D. Berkman, A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. The Cleft palate journal. ,vol. 15, pp. 56- 62 ,(1978)
Lorraine Potocki, Ken-Shiung Chen, Sung-Sup Park, Doreen E. Osterholm, Marjorie A. Withers, Virginia Kimonis, Anne M. Summers, Wendy S. Meschino, Kwame Anyane-Yeboa, Catherine D. Kashork, Lisa G. Shaffer, James R. Lupski, Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nature Genetics. ,vol. 24, pp. 84- 87 ,(2000) , 10.1038/71743
SJ Hassed, D Hopcus-Niccum, L Zhang, S Li, JJ Mulvihill, A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome Clinical Genetics. ,vol. 65, pp. 400- 404 ,(2004) , 10.1111/J.0009-9163.2004.0212.X
J.A.L. Armour, D.E. Barton, D.J. Cockburn, G.R. Taylor, The detection of large deletions or duplications in genomic DNA. Human Mutation. ,vol. 20, pp. 325- 337 ,(2002) , 10.1002/HUMU.10133
K.E. McTaggart, M.L. Budarf, D.A. Driscoll, B.S. Emanuel, P. Ferreira, H.E. McDermid, Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints Cytogenetic and Genome Research. ,vol. 81, pp. 222- 228 ,(1998) , 10.1159/000015035
Heather E. McDermid, Bernice E. Morrow, Genomic disorders on 22q11. American Journal of Human Genetics. ,vol. 70, pp. 1077- 1088 ,(2002) , 10.1086/340363
Regina E. Ensenauer, Adewale Adeyinka, Heather C. Flynn, Virginia V. Michels, Noralane M. Lindor, D. Brian Dawson, Erik C. Thorland, Cindy Pham Lorentz, Jennifer L. Goldstein, Marie T. McDonald, Wendy E. Smith, Elba Simon-Fayard, Alan A. Alexander, Anita S. Kulharya, Rhett P. Ketterling, Robin D. Clark, Syed M. Jalal, Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients American Journal of Human Genetics. ,vol. 73, pp. 1027- 1040 ,(2003) , 10.1086/378818
Max D. Cooper, Raymond D.A. Peterson, Robert A. Good, A new concept of the cellular basis of immunity The Journal of Pediatrics. ,vol. 67, pp. 907- 908 ,(1965) , 10.1016/S0022-3476(65)81796-6
Lisa Edelmann, Raj K. Pandita, Bernice E. Morrow, Low-Copy Repeats Mediate the Common 3-Mb Deletion in Patients with Velo-cardio-facial Syndrome The American Journal of Human Genetics. ,vol. 64, pp. 1076- 1086 ,(1999) , 10.1086/302343
Ann C. M. Smith, Loris McGavran, Jeannie Robinson, Gail Waldstein, Jean Macfarlane, Jon Zonona, Jacob Reiss, Martin Lahr, Leland Allen, Ellen Magenis, John M. Opitz, James F. Reynolds, Interstitial deletion of (17)(p11.2p11.2) in nine patients American Journal of Medical Genetics. ,vol. 24, pp. 393- 414 ,(1986) , 10.1002/AJMG.1320240303