Chromosome 22q11.21 and 11p15.4 microdeletions confirmed by high‐throughput sequencing analysis in one patient with asymmetric cry syndrome: Case report and review of the literature

Pang, Yonghong; Yu, Yanchong; Deng, Xiaoyi; Liu, Qian; Yan, Junmei; Gao, Xiangyu

doi:10.1002/ccr3.4072

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2022

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“…Therefore, the couples were recommended for genetic counseling and further chromosomal testing of maternal blood. It would be significant for their second conception if one of the couples were a carrier or chimera [ 12 , 13 ].…”

Section: Discussionmentioning

confidence: 99%

Extended application of BACs-on-Beads technique in prenatal diagnosis

et al. 2022

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IntroductionThis study explored the application of bacterial artificial chromosomes (BACs)-on-Beads (BoBs) technique, especially its ability to detect microdeletion/microduplication regions with a single probe.Material and methodsBoth chromosome karyotyping and BoBs technique were applied on a total of 2218 pregnant women. Chromosome microarray analysis (CMA) was performed on patients whose cells were reported as being abnormal by BoBs technique with a single probe.ResultsTwenty-two cases were detected as microdeletion/microduplication with a single probe, which was consistent with the CMA results.ConclusionsWe believe that the microdeletion/microduplication results detected by BoBs technique with a single probe provide comprehensive guidance for prenatal diagnosis.

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Section: Discussionmentioning

confidence: 99%