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Updated: May 24, 2025
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier
Lu Wan1, Zeng Baitao1, Tan Yuxin2
1Medical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital, #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006, China.
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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