A case of global development delay caused by 7q21.3-7q22.1 copy number variation
Objective To explore the characteristics of 7q21.3-7q22.1 gene in a patient with global development delay(GDD),in order to provide a feasibility basis for clinical diagnosis and genetic counseling of this disease.Methods A child with GDD was selected as the study subject.Clinical data of the patient were reviewed.Whole-exome gene sequencing was used for gene detection,and WEAVER™ algorithm was used for DNA copy number variation(CNV)at exon level.Results A microduplication at 7q21.3-7q22.1:(chr7:?_93055667-101899117_?)×3 was identified by whole-exome gene sequencing(The exact breaking point is unknown),this was new mutation had not been reported before.No abnormalities in this site were de-tected in the parents,suggesting that was a new mutation.Conclusion 7q21.3-7q22.1 copy number variation may be the causative agent of this child,respectively.
global development delay(GDD)7q21.3-7q22.1 genecopy number variation(CNV)
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