Cargando…
A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years old. The child carried a complex rearrangement with...
Autores principales: | Mandrile, Giorgia, Di Gregorio, Eleonora, Calcia, Alessandro, Brussino, Alessandro, Grosso, Enrico, Savin, Elisa, Giachino, Daniela Francesca, Brusco, Alfredo |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259072/ https://www.ncbi.nlm.nih.gov/pubmed/25506442 http://dx.doi.org/10.1155/2014/470830 |
Ejemplares similares
-
Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
por: Hu, Jie, et al.
Publicado: (2017) -
19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype
por: Venegas-Vega, Carlos, et al.
Publicado: (2014) -
A Novel de Novo Paracentric Inversion [inv(20)(q13.1q13.3)] Accompanied by an 11q14.3-q21 Microdeletion in a Pediatric Patient with an Intellectual Disability
por: Zachaki, S, et al.
Publicado: (2018) -
Adult expression of a 3q13.31 microdeletion
por: Lowther, Chelsea, et al.
Publicado: (2014) -
Further clinical and molecular delineation of the 15q24 microdeletion syndrome
por: Mefford, Heather C, et al.
Publicado: (2011)