Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies
Author:
Publisher
Springer Science and Business Media LLC
Subject
Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry
Link
http://link.springer.com/content/pdf/10.1186/s13039-018-0367-3.pdf
Reference47 articles.
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2. Pezzolo A, Gimelli G, Cohen A, Lavaggetto A, Romano C, Fogu G, Zuffardi O. Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability. Hum Genet. 1993;92:23–7.
3. Zhang HZ, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, Pober BR. FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. Am J Med Genet. 2004;124A:280–7.
4. Zhang HZ, Xu F, Seashore M, Li P. Unique genomic structure and distinct mitotic behavior of ring chromosome 21 in two unrelated cases. Cytogenet Genome Res. 2012;136:180–7.
5. Guilherme R, Klein E, Hamid A, Bhatt S, Volleth M, Polityko A, Kulpanovich A, Dufke A, Albrecht B, Morlot S, Brecevic L, Petersen M, Manolakos E, Kosyakova N, Liehr T. Human ring chromosomes - new insights for their clinical significance. Balkan J Med Genet. 2013;16:13–20.
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