Objective: This study was aimed to identify a rare complex rearrangement and assist prenatal counseling.
Method: Mate-pair sequencing (MPseq) combined with karyotypes, copy number variants sequencing and whole exome sequencing was used to provide accurate chromosome breakpoints and assist prenatal diagnosis for a mentally retarded pregnant woman.
Result: MPseq indicated a complex rearrangement involved 25 breakpoints and fusions, disrupting 6 genes. Among which, ZMIZ1 was associated with neurodevelopmental disorders with dysmorphic facies and distal skeletal abnormalities, which was consistent with the phenotype of pregnant women.
Conclusion: MPseq was a cost-effective and accurate method that could be used as a complementary tool for human genetic diagnosis and prenatal counseling.
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Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier.
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Objective: This study was aimed to identify a rare complex rearrangement and assist prenatal counseling.
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View Article and Find Full Text PDFMate-Pair Sequencing Enables Identification and Delineation of Balanced and Unbalanced Structural Variants in Prenatal Cytogenomic Diagnostics.
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Article Synopsis
- Some people who have balanced chromosomal rearrangements (BCRs) might actually have hidden complex rearrangements (CCCRs) that can affect their health.
- In a study with over 1,200 participants, researchers found that about 3.6% of BCR carriers also had these CCCRs, which can impact up to three different chromosomes.
- The study showed that BCR carriers with only one or two chromosome rearrangements had better chances of having healthy embryos compared to those with three rearrangements.
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