Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature-Reference-Cited by-同舟云学术

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Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature

Published:2016-10-10 Issue:1 Volume:9 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Tassano Elisa,Severino Mariasavina,Rosina Silvia,Papa Riccardo,Tortora Domenico,Gimelli Giorgio,Cuoco Cristina,Picco Paolo

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/s13039-016-0285-1.pdf

Reference32 articles.

1. de Grouchy J, Royer P, Salmon C, Lamy M. Deletion partielle des bras longs du chromosome 18. Path et Biol. 1964;12:579–82.

2. Cody JD, Ghidoni PD, DuPont BR, Hale DE, Hilsenbeck SG, Stratton RF, Hoffman DS, Muller S, Schaub RL, Leach RJ, Kaye CI. Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am J Med Genet. 1999;85:455–62.

3. Mark PR, Radlinski BC, Core N, Fryer A, Kirk EP, Haldeman-Englert CR. Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions. Am J Med Genet A. 2013;161A:1117–21.

4. Perry BP, Sebold C, Hasi M, Heard P, Carter E, Hill A, Gelfond J, Hale DE, Cody JD. Sensorineural hearing loss in people with deletions of 18q: hearing in 18q-. Otol Neurotol. 2014;35:782–6.

5. Cody JD, Hasi M, Soileau B, Heard P, Carter E, Sebold C, O’Donnell L, Perry B, Stratton RF, Hale DE. Establishing a reference group for distal 18q-: clinical description and molecular basis. Hum Genet. 2014;133:199–209.

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