Cargando…
Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male
Interstitial deletions of the long arm of chromosome 11 are rare, and they could be assumed as non-recurrent chromosomal rearrangements due to high variability of the size and the breakpoints of the deleted region. The exact region of the deletion was difficult to be determined before the use of mol...
Autores principales: | Papoulidis, Ioannis, Paspaliaris, Vassilis, Siomou, Elisavet, Orru, Sandro, Murru, Roberta, Sifakis, Stavros, Nikolaidis, Petros, Garas, Antonios, Sotiriou, Sotirios, Thomaidis, Loretta, Manolakos, Emmanouil |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574176/ https://www.ncbi.nlm.nih.gov/pubmed/26388939 http://dx.doi.org/10.1186/s13039-015-0175-y |
Ejemplares similares
-
Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities
por: Dagklis, Themistoklis, et al.
Publicado: (2016) -
A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics
por: Lagou, Magdalini, et al.
Publicado: (2014) -
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)
por: Manolakos, Emmanouil, et al.
Publicado: (2009) -
Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature
por: MANOLAKOS, EMMANOUIL, et al.
Publicado: (2014) -
Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH
por: Manolakos, Emmanouil, et al.
Publicado: (2013)