Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes.
Corona-Rivera JR, Corona-Rivera A, Zepeda-Romero LC, Rios-Flores IM, Rivera-Vargas J, Orozco-Vela M, Santana-Bejarano UF, Torres-Anguiano E, Pinto-Cardoso M, David D, Bobadilla-Morales L.
Corona-Rivera JR, et al.
Congenit Anom (Kyoto). 2019 Sep;59(5):174-178. doi: 10.1111/cga.12309. Epub 2018 Oct 9.
Congenit Anom (Kyoto). 2019.
PMID: 30225942
Review.
Here, we report a patient with ring chromosome 6 [r(6)], associated with anterior segment dysgenesis (ASD) and other anomalies. The phenotype was due to a 1880 kb microdeletion at 6p25.3 identified by whole-genome array analysis, and was mainly attribu …
Here, we report a patient with ring chromosome 6 [r(6)], associated with anterior segment dysgenesis (ASD) and o …