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The deletion contains the FRG1 gene, which is expressed in the human brain.
However, the B95-8 deletion contains two repeat regions (IR4 and DRright) that could generate false positives.
The deletion contains TBX1, the major candidate gene, and other genes, controlling the third and fourth pharyngeal arches, brain and skeletal development.
This deletion contains exon and promoter 1B (Genbank D13981.1) and represents the smallest promoter deletion currently described in an FAP family.
We also found that deleting the entire hairpin (89,171) negated the enhancement in circularization (not shown), and in agreement, the predicted structure for this deletion contains far fewer free nucleotides in this case (17 vs 37 for wt).
In particular, 13q14 deletion contains a region called Minimal Deleted Region (MDR), a region of approximately 30 kb that contains DLEU2 gene, part of DLEU1, and the cluster of two miRNAs, namely, hsa-miR-15a and hsa-miR-16-1.
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cDNA from a subject with a SPAST final exon deletion contained multiple SPAST:SLC30A6 fusion transcripts, indicating that SPAST CNVs can have transcriptional effects beyond the gene itself.
One patient carried only a 1.48 Mb deletion containing eight genes, including RCAN1, and displayed a relatively severe DS phenotype, including cardiac anomaly (Lyle et al., 2009).
The exception in our study was the father in family 2 (II-1-1) was was found to harbour a rare chromosome 13q deletion containing 40 CNVs at a single genomic location.
This cell line is known for a deletion containing exon 4 [ 40].
Microarray analysis revealed a 181 kb heterozygous deletion containing the RSPO3 gene on chromosome 6q22.33 and a 90 kb heterozygous deletion containing the open reading frame C5orf13 on chromosome 5q22.1 in primary fibroblasts of the affected twin.
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