Deeper insight into repeated sequences and their features may shed light on the mechanisms involved in this microdeletion and similar genomic rearrangements.
This study reports a novel microdeletion of the IC1 region segregating with disease in a parent of origin-dependent dominant manner.
The blood samples from patients who were carriers of this microdeletion, were tested in the comet assay.
A study characterizing a microdeletion of 20q13.33, a cytogenetic locus in which COL9A3 is located, demonstrated that this abnormality is associated with several clinical features including mental retardation, developmental delay, speech and language deficits, behavior problems and seizures.
As this microdeletion was in a homozygous form, we predicted that it might be particularly deleterious to the individual and thus selected it for further study, as described below.
Furthermore, brain miRNAs affected by a microdeletion syntenic to human 22q11.2 were found in mouse models and human individuals carrying this microdeletion are at high risk of developing schizophrenia [ 9].
Despite 51 STSs encompassing AZFa, AZFb and AZFc screened in this study, no microdeletions were detected suggesting that MSY remained intact in both the cell lines.
Interestingly, this combination of phenotypes was found in previous studies in 15q13.3 microdeletion carriers (Sharp et al., 2008; Helbig et al., 2009).
On the other hand, to compare FISH and MLPA techniques for the study of 22q11.2 microdeletions, we performed MLPA in 4 pregnancies known to have 22q11.2 deletions (by FISH).
The study of 16p12.1 microdeletions presents an interesting case study of the previously underappreciated complexity of genetic disorder pathogenesis.
