Article
A phenotype map for 14q32.3 terminal deletions.
American journal of medical genetics. Part A - 1 Apr 2012
Engels Hartmut, Schüler Herdit M, Zink Alexander M, Wohlleber Eva, Brockschmidt Antje, Hoischen Alexander, Drechsler Matthias, Lee Jennifer A, Ludwig Kerstin U, Kubisch Christian, Schwanitz Gesa, Weber Ruthild G, Leube Barbara, Hennekam Raoul C M, Rudnik-Schöneborn Sabine, Kreiss-Nachtsheim Martina, Reutter Heiko
Abstract excerpt
Detailed molecular-cytogenetic studies combined with thorough clinical characterization are needed to establish genotype-phenotype correlations for specific chromosome deletion syndromes. Although many patients with subtelomeric deletions have been reported, the phenotype maps for many of the corresponding syndromes, including the terminal deletion 14q syndrome, are only slowly emerging. Here, we report on five...
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