Article
Interstitial duplication of 20q11.22q13.11: A case report and review of literature.
Molecular genetics & genomic medicine - 1 Aug 2021
Goetzinger Logan, Starks Rachel D, Dillahunt Kyle, Major Heather, Nagy Jaime M, Sidhu Alpa
Abstract excerpt
BACKGROUND: Reports of interstitial duplication of chromosome 20q11 are rare with only nine published patients to date. METHODS: We performed karyotype and chromosomal microarray analysis on a peripheral blood sample for our patient and reviewed the genes in the region to provide genotype-phenotype correlation. RESULTS: Clinical features of the patient include minor dysmorphic facial features, shorthands and...
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