Publications by authors named "Jian-zhu Wu"

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 to evaluate the advantage of high-resolution SNP array in identifying genetic aberrations in products of conception.

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Article Synopsis
  • The study aimed to evaluate how effective ultrasound markers are in screening for fetal trisomy 21 over a ten-year period, using data from 138 diagnosed fetuses.
  • It found that a high percentage (95.7%) of the fetuses displayed sonographic anomalies, with 87% showing ultrasound markers, which can be categorized into isolated and non-isolated markers.
  • The most common ultrasound markers identified included nasal bone hypoplasia and thickened nuchal fold, emphasizing the clinical importance of these markers in early detection of trisomy 21.
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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 marker chromosomes.

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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 performed.

Results: G-banded karyotype was 46, XX, ?(22q11.

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