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Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion |
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| Authors: | Jennifer McClarren Alan E Donnenfeld J Britt Ravnan |
| Institution: | 1. Genzyme Genetics, Philadelphia, PA, USA;2. Genzyme Genetics, Santa Fe, NM, USA |
| Abstract: | |
| Keywords: | ring 22 chromosome paracentric inversion DiGeorge syndrome truncus arteriosus hypoplastic thymus |