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Figure 2 | BMC Medical Genetics

Figure 2

From: A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

Figure 2

The proband of S37 with a 2.1-Mb microdeletion at 1q44 that disrupts the infantile spasms candidate gene HNRNPU reported by the WES study. A) A local view of the 1q44 deletion and genes in the deleted interval. The black arrows are the direction of transcription of genes. B) The clinical features of a proband with a dysmorphic face. C) Structural MRI analysis showed delayed myelination in the brain. D) qPCR confirmed the copy number loss in probands using three different primers (P1-P3) within HNRNPU. *p < 0.01, proband vs parents and control.

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BMC Medical Genetics

ISSN: 1471-2350

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