The first wave of information from the analysis of the human genome revealed SNPs to be
the main source of genetic and phenotypic human variation. However, the advent of genome …

The identification of the candidate genes for autism through linkage and association studies
has proven to be a difficult enterprise. An alternative approach is the analysis of cytogenetic …

The underlying cause of mental retardation remains unknown in up to 80% of patients. As
chromosomal aberrations are the most common known cause of mental retardation, several …

In the search for the biological causes of schizophrenia and bipolar disorder, glutamate
neurotransmission has emerged as one of a number of candidate processes and pathways …

The short arm of chromosome 8, 8p, is often rearranged in carcinomas, typically showing
distal loss by unbalanced translocation. We analysed 8p rearrangements in 48 breast …

Imbalances of 3p telomeric sequences cause 3p− and trisomy 3p syndrome, respectively,
showing distinct, but also shared clinical features. No causative genes have been identified …

Background: One of the major factors which influences the chromosome purity achievable
particularly during high speed sorting is the analytical resolution of individual chromosome …

The detection of chromosomal abnormalities in patients with mental retardation (MR) and
dysmorphic features increases with improvements of molecular cytogenetic methods. We …

We believe that array-CGH will be embraced as a tool for prenatal diagnosis of
chromosomal defects, but its introduction into clinical practice should proceed with caution …

Objectives To describe the cytogenetic and FISH characterization of a prenatally diagnosed
de novo complex chromosome rearrangement (CCR), showing the involvement of four …