Article
Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation family.
American journal of medical genetics. Part A - 1 Feb 2009
Filges Isabel, Röthlisberger Benno, Noppen Christoph, Boesch Nemya, Wenzel Friedel, Necker Judith, Binkert Franz, Huber Andreas R, Heinimann Karl, Miny Peter
Abstract excerpt
We report on the clinical and cytogenetic findings as well as the array-based characterization of an interstitial familial 13q21 deletion initially recognized by standard karyotyping. Although 13q deletions are known to imply a wide variability of clinical consequences, the deletion carriers of the familial deletion in three generations did not reveal a relevant phenotype. The breakpoints and the deletion size in...
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