Dandy-walker syndrome and microdeletions on chromosome 7 / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate genetic etiology of Dandy-Walker syndrome with array-based comparative genomic hybridization (array-CGH).</p><p><b>METHODS</b>Eight fetuses with Dandy-Walker malformations but normal karyotypes by conventional cytogenetic technique were selected. DNA samples were extracted and hybridized with Affymetrix cytogenetic 2.7 M arrays by following the manufacturer's standard protocol. The data were analyzed by special software packages.</p><p><b>RESULTS</b>By using array-CGH technique, common deletions and duplication on chromosome 7p21.3 were identified in three cases, within which were central nervous system disease associated genes NDUFA4 and PHF14.</p><p><b>CONCLUSION</b>Copy number variations (CNVs) of chromosome 7p21.3 region are associated with Dandy-Walker malformations which may be due to haploinsufficiency or overexpression of NDUFA4 and PHF14 genes.</p>