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Fig. 3 | Molecular Cytogenetics

Fig. 3

From: Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability

Fig. 3

Refining the deletion breakpoints in DGDP005 by qPCR. The 5′-UTR of the DAB1 gene is deleted while its first exon is intact indicating that the distal deletion breakpoint lies between DAB1 exon 1 and the 5′-UTR. The NFIA gene and SLC35D1 are both completely deleted in our patient. Two separate loci located in the proximal and distal intergenic region between SLC35D1 and C1orf141 were also assayed by qPCR. The distal intergenic region residing closer to SLC35D1 was found to be contained in the microdeletion, while the proximal intergenic region was intact. A value close to 1 indicates that the locus is not deleted, while a value near 0.5 shows deletion on another allele

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