Genetic diagnosis of a child with aortic stenosis and thumb aplasia / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the molecular mechanism and prognosis of a child with aortic stenosis and thumb aplasia.</p><p><b>METHODS</b>The karotypes of the child and his parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization(aCGH) for chromosomal duplications/deletions.</p><p><b>RESULTS</b>No karyotypic abnormality was detected at cytogenetic level for the child and his parents. aCGH identified a de novo 5.86 Mb deletion at 2q22.3-q23.3 in the child.</p><p><b>CONCLUSION</b>The child was diagnosed with 2q23.1 microdeletion syndrome. MBD5 may be the key gene for the 2q23.1 microdeletion syndrome.</p>