Article
Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients.
American journal of medical genetics. Part A - 1 Dec 2017
Hurd Lauren M, Thacker Mihir M, Okenfuss Ericka, Duker Angela L, Lou Yang, Harty Mary P, Conard Katrina, Lian Jane B, Bober Michael B
Abstract excerpt
Small supernumerary ring chromosome 6 (sSRC[6]) is a rare chromosomal abnormality characterized by a broad clinical phenotype. The spectrum of this disorder can range from phenotypically normal to severe developmental delay and congenital anomalies. We describe two unrelated patients with small SRCs derived from chromosome 6 with a novel bone phenotype. Both patients presented with a complex bone disorder...
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