Ying-jun Xie

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OBJECTIVES To evaluate the usefulness of chromosomal microarray analysis in fetuses with ventricular septal defects (VSDs) with or without associated anomalies and normal karyotype. METHODS Fetuses with VSDs and normal karyotypes were investigated by using an Affymetrix CytoScan HD array. The cases were classified as isolated or nonisolated VSDs. (More)
BACKGROUND Conventional karyotyping has been a routine method to identify chromosome abnormalities in products of conception. However, this process is being transformed by single nucleotide polymorphism (SNP) array, which has advantages over karyotyping, including higher resolution and dispensing with cell culture. Therefore, the purpose of this study was(More)
We report a case of Norrie disease, diagnosed by prenatal ultrasound, confirmed by Sanger sequencing of the DNP gene from the aborted fetal cord blood and histologically. Prenatal ultrasound revealed no abnormality in either eye at 22+1 and 31+4 gestational weeks, but at 36+5 gestational weeks both eyes had massive vitreous cavity opacities with complete(More)
OBJECTIVE Comprehensive use of molecular cytogenetic techniques for the detection of 1 case of small chromosome translocation. METHODS Following conventional chromosome preparation, G-banding karyotype analysis, spectral karyotyping (SKY), whole chromosome painting, two-color fluorescence in situ hybridization (FISH) and subtelomeric probe FISH were(More)
OBJECTIVE To perform spectral karyotyping (SKY), fluorescence in situ hybridization (FISH) and conventional karyotyping on prenatally detected marker chromosomes and complex chromosomal aberrations. METHODS Five marker chromosomes and 2 complex chromosome aberrations diagnosed by G banding were collected. SKY was performed to verify the composition of(More)
OBJECTIVE To investigate the clinical value of ultrasound markers in screening fetal trisomy 21. METHODS From Jan. 2001 to Dec. 2011, a retrospective study about sonographic information of 138 fetuses diagnosed as trisomy 21 was taken in the First Affiliated Hospital of Sun Yat-sen University. All fetuses were divided into 3 groups: isolated ultrasound(More)
OBJECTIVE To evaluate whether discrepant copy number variations (CNVs) contribute to the risk for discordant congenital anomalies in monochorionic diamniotic (MCDA) twins. METHODS We conducted a parallel testing using both G-banding for standard karyotyping and chromosomal microarray analysis (CMA) with Affymetrix CytoScan HD array in MCDA twins with(More)
OBJECTIVE To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). METHODS This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray analysis were performed, and(More)
OBJECTIVE To investigate the clinical features of the abnormal chromosome karyotypes in twin pregnancies complicated with fetal malformations. METHODS Totally 181 twin pregnancies (362 fetuses) in which one or two fetuses had abnormalities diagnosed by ultrasound were referred to the First Affiliated Hospital of Sun Yat-Sen University from January, 2000(More)
OBJECTIVE To study the selective effect to tumor cells mediated by a recombinant adenoviral vector carrying E2F-1 promoter. METHODS The AdEasy-1 adenoviral vector system was used in this experiment. Several recombinant adenovirus with tumor-targeting E2F-1 promoter were constructed and then the E2F-1 promoter gene was checked by PCR and sequencing. The(More)