Human molecular genetics · 2025
Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Wan Lu, Baitao Zeng, Yuxin Tan, Zhongfa Chen, Jihui Zhou, Ning Huang, Bicheng Yang, Shuhui Huang, Yanqiu Liu, Huizhen Yuan
Аннотация
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.
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.