Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review

Abstract Background Since 1969, 49 cases have been presented on ring chromosome 4. All of these cases have been characterized for the loss of genetic material. The genes located in these chromosomal regions are related to the phenotype. Case presentation A 10-year-old Ecuadorian Mestizo girl with ri...

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Bibliographic Details
Main Authors: César Paz-y-Miño, Ana Proaño, Stella D. Verdezoto, Juan Luis García, Jesús María Hernández-Rivas, Paola E. Leone
Format: Article
Language:English
Published: BMC 2019-11-01
Series:BMC Medical Genomics
Subjects:
Online Access:http://link.springer.com/article/10.1186/s12920-019-0614-4