Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the <i>SLX4</i>, <i>DNASE1</i>, <i>TRAP1</i>, and <i>CREBBP</i> Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy

<table class="table-group" id="tab1"><tr><td><table class="table"><tr><td class="thead-hr" colspan="3"><hr/></td></tr><tr class="thead"><td class="align_left">Gene</td><td class="align_center">Genomic coordinates</td><td class="align_center">Status in our patient with the deletion from positions 3,358,012 to 3,796,442</td></tr><tr><td class="thead-hr" colspan="3"><hr/></td></tr><tr><td class="align_left"><i>SLX4</i></td><td class="align_center">Chr16: 3,631,184–3,661,585</td><td class="align_center">Completely deleted</td></tr><tr><td class="align_left"><i>DNASE1</i></td><td class="align_center">Chr16: 3,702,940–3,708,096</td><td class="align_center">Completely deleted</td></tr><tr><td class="align_left"><i>TRAP1</i></td><td class="align_center">Chr16: 3,708,038–3,767,598</td><td class="align_center">Completely deleted</td></tr><tr><td class="align_left"><i>CREBBP</i></td><td class="align_center">Chr16: 3,775,056–3,930,121</td><td class="align_center">Partially deleted (the 5′ region of the <i>CREBBP</i> gene is not deleted)</td></tr><tr class="table-tr"><td colspan="3"><hr class="tbody-hr"/></td></tr></table></td></tr></table>

<div>The genomic coordinates of the deleted genes of interest in our patient.</div>

Case Reports in Genetics

tab1

Table 1

Table 1: Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the <i>SLX4</i>, <i>DNASE1</i>, <i>TRAP1</i>, and <i>CREBBP</i> Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy 

Table 1 | Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy 