Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion-Reference-Cited by-同舟云学术

Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion

Published:2019-08-01 Issue:1 Volume:12 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Fernández-Hernández Liliana,Navarro-Cobos María José,Alcántara-Ortigoza Miguel Angel,Ramos-Ángeles Sandra Elena,Molina-Álvarez Bertha,Díaz-Cuéllar Sinhué,Asch-Daich Bárbara,González-del Angel Ariadna

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/s13039-019-0438-0.pdf

Reference33 articles.

1. Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, et al. Nonrecurrent 17p11.2p12 rearrangement events that result in two concomitant genomic disorders: the PMP22-RAI1 contiguous gene duplication syndrome. Am J Hum Genet. 2015;97(5):691–707.

2. Doco-Fenzy M, Holder-Espinasse M, Bieth E, Magdelaine C, Vincent MC, Khoury M, et al. The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients. Am J Med Genet Part A. 2008;146(7):917–24.

3. Falco M, Amabile S, Acquaviva F. RAI1 gene mutations: mechanisms of smith–Magenis syndrome. Appl Clin Genet. 2017;10:85–94.

4. Bissell S, Wilde L, Richards C, Moss J, Oliver C. The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison. J Neurodev Disord. 2018;10(1):1–9.

5. Zhang F, Seeman P, Liu P, Weterman MAJ, Gonzaga-Jauregui C, Towne CF, et al. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet. 2010;86(6):892–903.