A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign-Reference-Cited by-同舟云学术

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign

Published:2019-06-14 Issue:1 Volume:12 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Restaldi Fabrizia,Alesi Viola,Aquilani Angela,Genovese Silvia,Russo Serena,Coletti Valentina,Pompili Daniele,Falasca Roberto,Dallapiccola Bruno,Capolino Rossella,Luciani Matteo,Novelli Antonio

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/s13039-019-0440-6.pdf

Reference9 articles.

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3. Gardner RJM, Sutherland GR, Lisa G. Shaffer, chromosome abnormalities and genetic counselling. UK: Oxford University Press; 2012.

4. Alesi V, Orlando V, Genovese S, Loddo S, Pisaneschi E, Pompili D, Surace C, Restaldi F, Digilio MC, Dallapiccola B, Dentici ML, Novelli A. Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization. Cytogenet Genome Res. 2017;151(4):179–85.

5. Valli R, Vinti L, Frattini A, Fabbri M, Montalbano G, Olivieri C, Minelli A, Locatelli F, Pasquali F, Maserati E. Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene. Mol Cytogenet. 2018;11:2.

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