Diagnosis of a case with Williams-Beuren syndrome by single nucleotide polymorphism array / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the genetic cause for a child with mental retardation, developmental delay and multi-systemic developmental disorders by analyzing the copy number variations (CNVs) and correlating the genotype with the phenotype.</p><p><b>METHODS</b>Routine G-banding was performed to analyze the karyotype of the patient and her parents. In addition, single nucleotide polymorphisms array (SNP-array) was used to determine the CNVs, which was confirmed by fluorescence in situ hybridization (FISH).</p><p><b>RESULTS</b>No karyotypic abnormality was detected upon chromosome analysis. However, SNP-array has identified a de novo hemizygous deletion of 1673 kb on chromosome region 7q11.23, which has been associated with Williams-Beuren syndrome. The microdeletion was confirmed by FISH testing.</p><p><b>CONCLUSION</b>A child with Williams-Beuren syndrome has been diagnosed by SNP-array and FISH. The de novo 7q11.23 microdeletion probably underlies the clinical manifestation of the patient. Compared with routine karyotype analysis, SNP-array is more useful for diagnosing children with multiple congenital anomalies with unclear etiology.</p>

Efficacy of double balloon catheter in full-term women for cervical ripening and labor induction / 中国医师杂志

Objective To determine the efficacy of the double balloon catheter in ripening and dilatation of the unfavorable cervix for induction of labor .Methods A total of 332 full-term women who were underwent induction of labor with the double balloon devices were collected for retrospective analysis .Cervix was assessed before the double balloon insertion and after it was removed 12 hours later, then amniotomy alone or combined with oxytocin was performed .Cord blood gases were analyzed .Results The double balloon catheter increased Bishop score in all subgroups with a mean improvement of 2.5 ±0.7 ( P <0.05 ) .The mean insertion-deliv-ery interval was (19.07 ±4.31)h.Cesarean section was performed in 80/332 (24.1%) patients.Cord arterial pH value was 7.3 ± 0.1 .Conclusions The double balloon catheter induced significant ripening and dilatation of the unfavorable cervix .It was effective and safe.