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Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14)

Author:
Chen, Chih-Ping, Lee, Meng-Ju, Chern, Schu-Rern, Wu, Peih-Shan, Su, Jun-Wei, Chen, Yu-Ting, Lee, Meng-Shan, Wang, Wayseen
Source:
Gene 2013 v.529 pp. 351-356
ISSN:
0378-1119
Subject:
chromosome elimination, genes, patients
Abstract:
We present prenatal diagnosis of de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14) 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.
Agid:
991486