Article
Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.
European journal of medical genetics - 1 Nov 2016
Shimojima Keiko, Ondo Yumiko, Matsufuji Mayumi, Sano Nozomi, Tsuru Hisashi, Oyoshi Tatsuki, Higa Nayuta, Tokimura Hiroshi, Arita Kazunori, Yamamoto Toshiyuki
Abstract excerpt
A female patient presented with developmental delay, distinctive facial features, and congenital anomalies, including a heart defect and premature lambdoid synostosis. The patient showed a paternally inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving the mitogen-activated protein kinase kinase 2 gene (MAP2K2), in which mutations cause the cardio-facio-cutaneous (CFC) syndrome....
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