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Keywords: Hereditary
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Journal Articles
A Familial Case of 1q31.2q32.2 Deletion with No Phenotypic Presentation
Available to PurchaseSubject Area:
Genetics
Journal:
Cytogenetic and Genome Research
Cytogenet Genome Res 23–30.
Published Online: 26 February 2025
... for colonic polyps and underwent multigene panel analysis for hereditary tumor predisposition syndromes which identified a full-gene deletion of CDC73 . Conclusion: Microarray analysis of peripheral blood DNA showed a 6.9-Mb heterozygous deletion of 1q31.2q32.2 encompassing 33 genes in both proband...