Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6-Reference-Cited by-同舟云学术

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6

Published:2013-02-11 Issue:1 Volume:6 Page:
ISSN:1755-8794
Container-title:BMC Medical Genomics
language:en
Short-container-title:BMC Med Genomics

Author:

Ciocca Laura,Surace Cecilia,Digilio Maria Cristina,Roberti Maria Cristina,Sirleto Pietro,Lombardo Antonietta,Russo Serena,Brizi Valerio,Grotta Simona,Cini Claudio,Angioni Adriano

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/1755-8794-6-3.pdf

Reference21 articles.

1. Kara N, Okten G, Guneş SO, Saglam Y, Tasdemir HA, Pinarli FA: An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion. Epilepsy Res. 2008, 80: 219-223. 10.1016/j.eplepsyres.2008.03.020.

2. Andrieux J, Devisme L, Valat AS, Robert Y, Frnka C, Savary JB: Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature. Eur J Med Genet. 2005, 48: 199-206. 10.1016/j.ejmg.2005.01.028.

3. Kosztolanyi G: Does “ring syndrome” exist? An analysis of 207 case reports on patients with a ring autosome. Hum Genet. 1987, 75: 174-179. 10.1007/BF00591082.

4. Pezzolo A, Gimelli G, Cohen A: Presence of telomeric and subtelomeric sequences at the fusion point of ring chromosomes indicates that the ring syndrome is caused by ring instability. Hum Genet. 1993, 92: 23-27. 10.1007/BF00216140.

5. Moore CM, Heller RH, Thomas GH: Developmental abnormalities associated with a ring chromosome 6. J Med Genet. 1973, 10: 299-303. 10.1136/jmg.10.3.299.

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