|
|||||
|
|
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1 |
|
| Authors: | Anna Brunet Lluís Armengol Damià Heine Jordi Rosell Manel García-Aragonés Elisabeth Gabau Xavier Estivill Miriam Guitart |
| Affiliation: | (1) Genes and Disease Program, CIBER en Epidemiolog?a y Salud P?blica (CIBERESP), Center for Genomic Regulation (CRG), Barcelona, Catalonia, Spain;(2) Genetic laboratory UDIAT-Centre Diagn?stic, Fundaci? Parc Taul? - Institut Universitari UAB, Corporaci? Sanit?ria Parc Taul?, Sabadell, Catalonia, Spain;(3) Hospital Universitari Son Dureta, Mallorca, Spain;(4) Pompeu Fabra University (UPF), Barcelona, Catalonia, Spain |
| Abstract: | BackgroundMicrodeletion of the chromosome 22q11.2 region is the most common genetic aberration among patients with velocardiofacial syndrome (VCFS) but a subset of subjects do not show alterations of this chromosome region. |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ | |