Xiu-qing Ji

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OBJECTIVE To detect the copy number variations (CNVs) of a fetus with hypoplastic left-heart syndrome, and to assess the value of array-based comparative genomic hybridization (array-CGH) for molecular cytogenetic diagnosis. METHODS The whole genome of a fetus with normal karyotype by G-banding was scanned and analyzed by array-CGH, and the CNVs was(More)
OBJECTIVE To determine the applicability of multiplex ligation-dependent probe amplification (MLPA) for rapid detection of aneuploidies in prenatal diagnosis. METHODS A total of 561 prenatal samples were analyzed in parallel by MLPA and traditional karyotyping. Another 20 clinical samples with known common chromosome abnormalities were also determined by(More)
OBJECTIVE To analyze chromosomal imbalance in a fetus presenting with congenital heart disease and mild lateral ventriculomegaly, and to investigate the correlation between genotype and phenotype. The etiology of the fetal congenital diseases was determined, and the feasibility of array-based comparative genomic hybridization (array-CGH) application in(More)
OBJECTIVE To investigate the genetic abnormalities of fetuses with congenital heart diseases (CHD), and to provide guidance for the management of pregnancy and genetic counseling. METHODS Eighty-one fetuses with CHD detected by fetal echocardiography were analyzed by karyotyping after amniocentesis, cordocentesis or chorionic sampling. Then 22q11.2(More)
OBJECTIVE To detect the copy number variation (CNV) of a fetus with interrupted aortic arch and ventricular septal defect, in order to explore the underlying genetic causes of the congenital malformation, and investigate the feasibility of array-based comparative genomic hybridization (array-CGH) in molecular cytogenetic diagnosis. METHODS The whole(More)
OBJECTIVE To explore the clinical value of multiplex ligation-dependent probe amplification (MLPA) technique performed in prenatal diagnosis of chromosome 22q11.2 microdeletion. METHODS MLPA was performed to detect chromosome 22q11.2 mircodeletion in 62 fetuses with congenital heart defects by fetal echocardiography and a normal karyotype by standard(More)
OBJECTIVE To explore the origins of small de novo mosaic supernumerary marker chromosomes (mars) in two fetuses, and to assess the feasibility of single nucleotide polymorphism array-based comparative genomic hybridization (SNP-array CGH) for prenatal molecular cytogenetic diagnosis. METHODS Two fetuses with de novo were identified. SNP-array marker(More)
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