De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-005-1273-4.pdf
Reference29 articles.
1. Arch EM, Goodman BK, van Wesep RA, Liaw D, Clarke K, Parsons R, McKusick VA, Geraghty MT (1997) Deletion of PTEN in a patient with Bannayan–Riley–Ruvalcaba syndrome suggests allelism with Cowden disease. Am J Med Genet 71:489–493
2. Bugge M, Bruun-Petersen G, Brøndum-Nielsen K, Friedrich U, Hansen J, Jensen G, Jensen PK, Kristoffersson U, Lundsteen C, Niebuhr E, Rasmussen KR, Rasmussen K, Tommerup N (2000) Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man. J Med Genet 37:858–865
3. Di Cristofano A, Pesce B, Cordon-Cardo C, Pandolfi PP (1998) Pten is essential for embryonic development and tumor suppression. Nat Genet 19:348–355
4. Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JRO, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR (2003) Mutations in SOX2 cause anophthalmia. Nat Genet 33:461–463
5. Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ, Fiegler H, Carr P, Kalaitzopoulos D, Clegg S, Sandstrom R, Temple I, Youings SA, Thomas N, Dennis N, Jacobs PA, Crolla JA, Carter NP (2005) The complex nature of constitutional de novo apparently balanced translocations in patients with abnormal phenotypes. J Med Genet 42:8–16
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