Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients

CONCLUSION: In the present study, for the first time, an investigation was conducted into two novel cases of 20q13.33 microdeletion with microduplications in the 17q25.3 and 14q32.31q32.33 regions in the Chinese population. The presence of micropenis may be attributed to the 20q13.33 microdeletion, potentially expanding the phenotypic spectrum associated with this deletion.PMID:38553934 | DOI:10.1002/mgg3.2429

Source: Molecular Medicine - March 30, 2024 Category: Molecular Biology Authors: Jianlong Zhuang Na Zhang Junyu Wang Yuying Jiang Hegan Zhang Chunnuan Chen Source Type: research