Identifier to cite or link to this item: http://hdl.handle.net/20.500.13003/13594
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1
Identifiers
ISSN: 1471-2350
WOS ID: 000273597900001
Scopus EID: 2-s2.0-74549171440
PMID: 20030804
Embase PUI: L358128742
Share
Statistics
Item usage statisticsMetadata
Show Dublin Core item recordPublication date
2009-12-23Document type
research articleCitation
Brunet A, Armengol L, Heine D, Rosell J, Garcia-Aragones M, Gabau E, et al. BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. BMC Med Genet. 2009 Dec 23;10:144.Abstract
Background: Microdeletion 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. Methods: We analyzed 18 patients with VCFS-like features by comparative genomic hybridisation (aCGH) array and performed a face-to-face slide hybridization with two different arrays: a whole genome and a chromosome 22-specific BAC array. Putative rearrangements were confirmed by FISH and MLPA assays. Results: One patient carried a combination of rearrangements on 1q21.1, consisting in a microduplication of 212 kb and a close microdeletion of 1.15 Mb, previously reported in patients with variable phenotypes, including mental retardation, congenital heart defects (CHD) and schizophrenia. While 326 control samples were negative for both 1q21.1 rearrangements, one of 73 patients carried the same 212-kb microduplication, reciprocal to TAR microdeletion syndrome. Also, we detected four copy number variants (CNVs) inherited from one parent (a 744-kb duplication on 10q11.22; a 160 kb duplication and deletion on 22q11.21 in two cases; and a gain of 140 kb on 22q13.2), not present in control subjects, raising the potential role of these CNVs in the VCFS-like phenotype. Conclusions: Our results confirmed aCGH as a successful strategy in order to characterize additional submicroscopic aberrations in patients with VCF-like features that fail to show alterations in 22q11.2 region. We report a 212-kb microduplication on 1q21.1, detected in two patients, which may contribute to CHD.
Publisher version
https://dx.doi.org/10.1186/1471-2350-10-144MeSH
ChildChromosomes, Artificial, Bacterial
Young Adult
Chromosomes, Human, Pair 1
Chromosome Deletion
Humans
Child, Preschool
Adolescent
Chromosome Mapping
Chromosomes, Human, Pair 22
DiGeorge Syndrome
Male
Gene Dosage
Female
Genome, Human
In Situ Hybridization, Fluorescence
Comparative Genomic Hybridization
DeCS
Genoma HumanoHibridación Fluorescente in Situ
Cromosomas Artificiales Bacterianos
Síndrome de DiGeorge
Femenino
Dosificación de Gen
Adolescente
Masculino
Hibridación Genómica Comparativa
Cromosomas Humanos Par 22
Preescolar
Deleción Cromosómica
Humanos
Adulto Joven
Mapeo Cromosómico
Niño
Cromosomas Humanos Par 1