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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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: César Paz-y-Miño, Ana Proaño, Stella D. Verdezoto, Juan Luis García, Jesús María Hernández-Rivas, Paola E. Leone
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2019-11-01
Schriftenreihe:BMC Medical Genomics
Schlagworte:
46,XX,r(4)(p16.3q35.2)
Ring chromosome 4
Mosaic
inv dup del rearrangement
FISH
Mapping array
Online-Zugang:http://link.springer.com/article/10.1186/s12920-019-0614-4
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