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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability

Fig. 1

a The mutation co-segregation in the pedigree. b Sleep–electroencephalography (EEG) showed that low-middle amplitude sharp waves and slow spike waves were distributed sporadically or continuously in the frontal and lateral temporal cortices during the interictal phase. c Exon 14–17 deletion in the proband was verified by PCR and agarose gel electrophoresis. PCR production for the exon 14–17 could not be detected in proband, but the adjacent exon 13 and 18 could be amplified. While the healthy control child gave products with expected sizes. d Exon 14–17 deletion was hemizygous in the proband, and heterozygous in the mother validated by quantitative realtime PCR

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