- Wu D, Wang H, Zhang H, Hou Q, Qin L, Wang T, et al. [Phenotypic and genetic analysis of a girl with multiple congenital deformities due to 2p15-p16.1 microdeletion syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015;32:823-6 pubmed publisher..The de novo interstitial 2p15-p16.1 deletion may cause the mental retardation and multiple congenital deformities. chr2:60.5-61.5 Mb may be the minimal common region of 2p15-p16.1 microdeletion syndrome. ..
- Zhang H, Shi W, Xiao H, Wu D, Qin L, Liao S. [Analysis of PRRT2 gene mutations in a Chinese family affected with paroxysmal kinesigenic dyskinesia]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016;33:61-3 pubmed publisher..The c.649dupC mutation of the PRRT2 gene probably underlies the PKD in this family. Prenatal diagnosis can reduce the risk for further birth of affected children for this family. ..
- Wu D, Zhang H, Wang H, Hou Q, Wang T, Li T, et al. [Phenotypic and genetic analysis of a boy with partial trisomy of 1q]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:398-401 pubmed publisher..1 Mb duplication at 1q42q44 in the proband. The de novo 1q42q44 duplication, which may be due to non-allelic homologous recombination mediated by low copy repeats, probably underlies the abnormalities in the proband. ..
- Wu D, Shi W, Wang H, Hou Q, Zhang H, Li T, et al. [Prenatal diagnosis and genetic analysis of a fetus with 6q27 microdeletion]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:718-721 pubmed publisher..The 6q27 deletion may be responsible for the structural brain abnormalities in the fetus. The palindrome sequence flanking the chromosomal breakpoint may be involved the formation of the 6q27 deletion. ..
- Wu D, Li T, Wang H, Shi W, Hou Q, Zhang H, et al. [Clinical and genetic analysis of a boy with 9q34.3 microdeletion syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:849-852 pubmed publisher..The de novo 9q34.3 deletion probably underlies the mental retardation and development delay in the boy. EHMT1 may be one of the key genes responsible for 9q34.3 microdeletion syndrome. ..