Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5906188 | Gene | 2013 | 6 Pages |
Abstract
We present prenatal diagnosis of de novo proximal interstitial deletion of chromosome 4p (4p15.2âp14) and molecular cytogenetic characterization of the deletion using uncultured amniocytes. We review the phenotypic abnormalities of previously reported patients with similar proximal interstitial 4p deletions, and we discuss the functions of the genes of RBPJ, CCKAR, STIM2, PCDH7 and ARAP2 that are deleted within this region.
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Genetics
Authors
Chih-Ping Chen, Meng-Ju Lee, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Yu-Ting Chen, Meng-Shan Lee, Wayseen Wang,