13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

Author:

Bestetti Ilaria,Sironi Alessandra,Catusi Ilaria,Mariani Milena,Giardino Daniela,Manoukian Siranoush,Milani Donatella,Larizza Lidia,Castronovo Chiara,Finelli Palma

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Reference26 articles.

1. Allderdice PW, Davis JG, Miller OJ, et al. The 13q-deletion syndrome. Am J Hum Genet. 1969;21:499–512.

2. Tranebjaerg L, Nielsen KB, Tommerup N, Warburg M, Mikkelsen M. Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients. Am J Med Genet Part A. 1988;29A:739–53.

3. Brown S, Gersen S, Anyane-Yeboa K, Warburton D. Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet Part A 1993;45A:52–59.

4. Brown S, Russo J, Chitayat D, Warburton D. The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32. Am J Hum Genet Part A. 1995;57A:859–66.

5. Van Buggenhout G, Trommelen J, Hamel B, Fryns JP. 13q deletion syndrome in an adult mentally retarded patient. Genet Couns 1999;10:177–181.

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