Article
Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.
American journal of medical genetics. Part A - 1 Apr 2020
Hu Jie, Ou Zhishuo, Surti Urvashi, Kochmar Sally, Hoffner Lori, Madan-Khetarpal Suneeta, Arnold Georgianne L, Walsh Leslie, Acquaro Roxanne, Sebastian Jessica, Yatsenko Svetlana A
Abstract excerpt
Children or adults with mosaic trisomy 12 diagnosed postnatally are extremely rare. Only a small number of patients with this mosaicism have been reported in the literature. The clinical manifestation of mosaic trisomy 12 is variable, ranging from mild developmental delay to severe congenital anomaly and neonatal death. The trisomy 12 cells are not usually able to be detected by phytohemagglutinin stimulated...
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