Coexistence of Fragile-X Syndrome, 8p23.1 Deletion, and Balanced Translocation t(7;10)(p10;q24) in a Single Family-Reference-Cited by-同舟云学术

Coexistence of Fragile-X Syndrome, 8p23.1 Deletion, and Balanced Translocation t(7;10)(p10;q24) in a Single Family

Published:2020-08-01 Issue:8 Volume:24 Page:527-531
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Cortés Hernán¹,Reyes-Rosales Mariana¹²,Rojas-Velasco Antonio J.³,García-Juárez Brenda³,Tapia-Guerrero Yessica S.¹,Arenas-Diaz Silvia¹,Leyva-García Norberto¹,Macías-Gallardo Julio J.⁴,Carrillo-Mora Paul³,Magaña Jonathan J.¹⁵

Affiliation:

1. Laboratory of Genomic Medicine, Department of Genetics, National Rehabilitation Institute-Luis Guillermo Ibarra Ibarra (INR-LGII), Mexico City, Mexico.

2. Department of Medical Genetics, Naval Medical Center, Secretariat of Navy (SEMAR), Mexico City, Mexico.

3. Neurosciences Division, and National Rehabilitation Institute-Luis Guillermo Ibarra Ibarra (INR-LGII), Mexico City, Mexico.

4. Electrodiagnostic Service, National Rehabilitation Institute-Luis Guillermo Ibarra Ibarra (INR-LGII), Mexico City, Mexico.

5. School of Engineering and Sciences, Department of Bioengineering, Tecnológico de Monterrey-Campus Ciudad de México, Mexico City, Mexico.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2019.0276

Reference14 articles.

1. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

2. Genotype–phenotype correlations in a new case of 8p23.1 deletion and review of the literature

3. Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1

4. A CGH array study in nonsyndromic (primary) autism patients: deletions on16p13.11, 16p11.2, 1q21.1, 2q21.1q21.2, and 8p23.1