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Figure 3 | BMC Medical Genetics

Figure 3

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 3

A patient from S162 with a 4.1-Mb microdeletion at 2q23.1 that disrupts the known ASD causative gene MBD5 . A) A local view of the 4.1 Mb 2q31.1 deletion and genes in the deleted interval. B) Analysis by qPCR confirmed the copy number loss and de novo event in the patient using 7 primers (MBD5E6-E13) from exons 5–13 of MBD5. C) The clinical features of a proband with a dysmorphic face, including a coarse face. D) Clinodactyly of the fifth finger, excessive fat pads of the second and middle fingers, and the absence of great toes. E) X-ray analyses showed the absence of the distal and proximal phalanges of the great toes. *p < 0.01, proband vs parents and control.

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