Article
Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report.
BMC medical genomics - 9 Nov 2023
Yang Huanhuan, Huang Jun, Zheng Hao, Zhang Yunfan, Zhang Yuanzhen, Liu Wei, Wu Jinrong, Chen Xiaobin, Lin Jinfeng, Ni Yanna, Nie Xiaojing
Abstract excerpt
BACKGROUND: 1P36 deletion syndrome is recognized as the most common terminal microdeletion syndrome in humans, characterized by early developmental delay and consequent intellectual disability, seizure disorder, and distinctive facial features. Variable deletion locations may attributed to phenotypic variability. However, the abnormal phenotypes of hematology are rarely reported in 1P36 deletion syndrome...
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