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

<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>

Analysis of Chinese women with primary ovarian insufficiency by high resolution array-comparative genomic hybridization / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Primary ovarian insufficiency (POI) is defined as a primary ovarian defect characterized by absent menarche (primary amenorrhea) or premature depletion of ovarian follicles before the age of 40 years. The etiology of primary ovarian insufficiency in human female patients is still unclear. The purpose of this study is to investigate the potential genetic causes in primary amenorrhea patients by high resolution array based comparative genomic hybridization (array-CGH) analysis.</p><p><b>METHODS</b>Following the standard karyotyping analysis, genomic DNA from whole blood of 15 primary amenorrhea patients and 15 normal control women was hybridized with Affymetrix cytogenetic 2.7M arrays following the standard protocol. Copy number variations identified by array-CGH were confirmed by real time polymerase chain reaction.</p><p><b>RESULTS</b>All the 30 samples were negative by conventional karyotyping analysis. Microdeletions on chromosome 17q21.31-q21.32 with approximately 1.3 Mb were identified in four patients by high resolution array-CGH analysis. This included the female reproductive secretory pathway related factor N-ethylmaleimide-sensitive factor (NSF) gene.</p><p><b>CONCLUSIONS</b>The results of the present study suggest that there may be critical regions regulating primary ovarian insufficiency in women with a 17q21.31-q21.32 microdeletion. This effect might be due to the loss of function of the NSF gene/genes within the deleted region or to effects on contiguous genes.</p>

Application of spectral karyotyping in diagnosis of complex chromosome aberration / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the value of spectral karyotyping (SKY) to identify the complex chromosome aberration.</p><p><b>METHODS</b>Four cases were selected that can not be identified by standard cytogenetic techniques. The chromosome specimens were detected by the routine SKY method, and the results were analyzed by the SKY View software.</p><p><b>RESULTS</b>By using SKY a case of complex chromosome rearrangements and two cases of chromosome duplication were identified. However it could not identify the chromosome inversion and the breakpoint of chromosome aberration.</p><p><b>CONCLUSION</b>SKY may be a valuable tool in identification of complex chromosome translocation, rearrangement, minute aberration and unknown derivative chromosomes. Though SKY can not replace the standard cytogenetic techniques, but it will be the benefit supplementary.</p>