Prenatal Diagnosis of a de novo 2q14.3-q22.1 Deletion with Complex Chromosomal Rearrangement

产前诊断 2q14.3-q22.1 新生缺失,伴有复杂染色体重排

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作者:Yong Wu, Chuanning Liao, Yamei Xie, Lingxi Wang

Conclusion

The region contains haploinsufficient genes that can cause different phenotypes, mainly associated with neurodevelopmental and autism spectrum disorders. However, the genotype-phenotype correlation is limited in prenatal evaluation. Therefore, the combined use of multiple diagnostic techniques has an important role in the assessment of CCRs and genetic counseling.

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