Interstitial duplication of 20q11.22q13.11: A case report and review of literature

Logan Goetzinger; Rachel D. Starks; Kyle Dillahunt; Heather Major; Jaime M. Nagy; Alpa Sidhu

doi:10.1002/mgg3.1755

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Interstitial duplication of 20q11.22q13.11: A case report and review of literature

Journal article

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Interstitial duplication of 20q11.22q13.11: A case report and review of literature

Logan Goetzinger, Rachel D. Starks, Kyle Dillahunt, Heather Major, Jaime M. Nagy and Alpa Sidhu

Molecular genetics & genomic medicine, Vol.9(8), pp.e1755-n/a

08/2021

DOI: 10.1002/mgg3.1755

PMCID: PMC8404222

PMID: 34268909

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Abstract

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 feet, bilateral conductive hearing loss, global developmental delay, and behavioral issues with attention deficit hyperactivity disorder. Together with previously published cases of 20q11 duplication, we show that patients with overlapping duplications share a similar clinical phenotype of dysmorphic craniofacial features and developmental delay. Conclusion: We report an 8-year-old girl with a 9.1 Mb interstitial duplication of chromosome 20q11.22q13.11. Our observations suggest that a novel duplication syndrome and documentation of similar cases will further help clarify the phenotype.

Details

Title: Subtitle: Interstitial duplication of 20q11.22q13.11: A case report and review of literature
Creators: Logan Goetzinger - Roy J. and Lucille A. Carver College of Medicine
Rachel D. Starks - University of Iowa Hospitals and Clinics
Kyle Dillahunt - University of Iowa
Heather Major - University of Iowa Hospitals and Clinics
Jaime M. Nagy - University of Iowa
Alpa Sidhu - University of Iowa Hospitals and Clinics
Resource Type: Journal article
Publication Details: Molecular genetics & genomic medicine, Vol.9(8), pp.e1755-n/a
DOI: 10.1002/mgg3.1755
PMID: 34268909
PMCID: PMC8404222
NLM abbreviation: Mol Genet Genomic Med
ISSN: 2324-9269
eISSN: 2324-9269
Language: English
Date published: 08/2021
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984354045702771

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