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Fig. 1 | BMC Medical Genomics

Fig. 1

From: A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures

Fig. 1

The result of chromosomal microarray analysis and whole exome sequencing in the patient. A A 2.7-Mb deletion in 1q44 region as detected by chromosomal microarray analysis. As shown in B, the terminal deletion of 1q44 contained 14 OMIM genes, including SMYD3, TFB2M, CNST, AHCTF1, ZNF695, ZNF124, ZNF496, NLRP3, OR13G1, OR2W3, OR2M7, OR14I1, LYPD8, and ZNF692. C A novel c.251C > G (p.T84R) variant in PAK1 gene was identified in the patient by WES technology. D Sanger sequencing results confirmed the c.251C > G variant in the patient, and no relevant variant was observed in her parents

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BMC Medical Genomics

ISSN: 1755-8794

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