Identification of microRNAs associated with the survival of patients with gallbladder carcinoma.

Objective: This study investigated micro (mi)RNAs associated with the survival of patients with gallbladder carcinoma (GBC).

Methods: miRNA expression profiling was carried out of 40 cancerous tissues from GBC patients with long-term (n = 20) and short-term (n = 20) survival and eight healthy gallbladder tissues from the Gene Expression Omnibus database. miRNAs dysregulated in GBC patients with long-term or short-term survival were identified using GEO2R and VennDiagram packages, and analyzed by miRNA target prediction tools and the clusterProfiler package.

[Prenatal diagnosis of a novel SOX10 mutation in a patient with syndromic hearing loss].

Objective: To explore the genetic basis for a patient with syndromic hearing loss.

Methods: Genomic DNA of the patient was extracted, for which 127 deafness-related genes were enriched with a chip. Following next generation sequencing, pathogenic loci in exonic regions were analyzed through comparison against the databases.

[Diagnosis and reproductive guidance for a couple carrying a novel c.1893C>T mutation of the TECTA gene].

Objective: To explore the molecular basis for an individual with postnatal deafness and provide genetic counseling for her family.

Methods: Following extraction of genomic DNA from peripheral blood samples, 127 genes associated with deafness were subjected to targeted capturing and next generation sequencing. Suspected mutation was verified by Sanger sequencing.

[Prenatal diagnosis of a Pallister-Killian syndrome case through analysis of a supernumerary chromosome using single nucleotide polymorphism array].

Objective: To explore the origin of a supernumerary small marker chromosome (sSMC) in a fetus, and to assess the feasibility of single nucleotide polymorphism array (SNP-array) for prenatal diagnosis.

Methods: The fetal sample was subjected to karyotyping analysis. The identified sSMC was subjected to genome-wide scan using a SNP microarray chip.

[A case of Wolf-Hirschhorn syndrome diagnosed by single nucleotide polymorphism array].

Objective: To explore the genetic causes for a child with multiple congenital malformations and epilepsy through analysis of copy number variations, and to correlate the genotype with the phenotype.

Methods: G-banding karyotyping was performed on the child and her parents. Single nucleotide polymorphisms array (SNP-array) was used to map the exact chromosomal breakpoints in the proband.

[Diagnosis of a case with Williams-Beuren syndrome by single nucleotide polymorphism array].

Objective: 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.

Methods: 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).

First trimester, second trimester, and integrated screening for Down's syndrome in China.

Objective: To compare the effectiveness of first trimester, second trimester, and integrated screening for Down's syndrome.

Setting: Two prenatal diagnosis centres in China.

Methods: A total of 11,966 pregnant women (≥18 years) were screened over 21 months.