Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Retrospective study of 186 fetuses with sex chromosomal copy number variations

ABSTRACT: Retrospective study of 186 fetuses with sex chromosomal copy number variations

PROVIDER: PRJNA859793 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

Retrospective study of 186 fetuses with sex chromosomal copy number variations

Project description:Sex chromosomal abnormalities areare associated with multiple defects. In this study, we retrospectively analyzed the single nucleotide polymorphism (SNP) arrays of 186 early embryos with sex chromosomal abnormalities. using single nucleotide polymorphism (SNP) array. Among them, 52 cases of Turner syndrome, 21 cases of triple X syndrome, 35 cases of Klinefelter syndrome and 14 cases of XYY syndrome were detected. Moreover, 27 cases of mosaic sex chromosomal abnormalities were determined. Sex chromosomal deletions and duplications were found in 37 cases. Overall, our results presented a detailed manifestation of sex chromosomal abnormalities.

2022-07-29 | GSE208389 | GEO

Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers

Project description:This study aimed to evaluate the clinical value of copy number variations (CNVs) in fetuses with ultrasonic soft markers. Among 1131 fetuses, 729 had single ultrasonic soft marker, 322 had two ultrasonic soft markers, and 80 had three or more ultrasonic soft markers. All fetuses underwent single nucleotide polymorphism (SNP) array analysis. Among 1131 fetuses with ultrasonic soft markers, 46 had chromosomal abnormalities. In addition to the 46 fetuses with chromosomal abnormalities consistent with the results of the karyotyping analysis, the SNP array identified additional 6.1% (69/1131) abnormal CNVs. No significant difference was found in the rate of abnormal CNVs among the groups. The SNP array can fully complement conventional karyotyping in fetuses with ultrasonic soft markers, improve detection rate of chromosomal abnormalities, and affect pregnancy outcomes.

2020-12-24 | GSE163799 | GEO

Copy number variation analysis of 18,000 fetuses in southern China

Project description:Chromosomal microarray analysis (CMA) in prenatal diagnosis detects copy number variations (CNVs) in many fetuses; however, the low penetrance and phenotypic diversity of CNVs complicate genetic counseling, resulting in limited understanding of intrauterine ultrasound phenotypes linked to CNVs. In a retrospective analysis of 25,000 cases at Fujian Maternal and Child Health Hospital, 18,000 pregnant women underwent SNP array testing (December 2015 to June 2023).

2024-08-14 | GSE274505 | GEO