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

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...

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Detalles Bibliográficos
Autores principales: Goetzinger, Logan, Starks, Rachel D., Dillahunt, Kyle, Major, Heather, Nagy, Jaime M., Sidhu, Alpa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404222/
https://www.ncbi.nlm.nih.gov/pubmed/34268909
http://dx.doi.org/10.1002/mgg3.1755