Prague Med. Rep. 2012, 113, 279-288

https://doi.org/10.14712/23362936.2015.11

Cryptic Chromosome Rearrangements in Five Patients, with Normal and/or Abnormal Karyotypes, Associated with Mental Retardation, Autism and/or Epilepsy, Detected by BAC Genome Array-CGH

V. Cabras1, A. Milia2, C. Montaldo3, Anna Lisa Nucaro4

1Department of Experimental Medical Pathology, Faculty of Medicine and Surgery, University of Cagliari, Cagliari, Italy
2Department of Experimental Biology, Faculty of Medicine and Surgery, University of Cagliari, Cagliari, Italy
3Department of Surgical Sciences, Faculty of Medicine and Surgery, University of Cagliari, Cagliari, Italy
4Genetic and Biomedical Research Institute – CNR, Cittadella Universitaria, Monserrato, Cagliari, Italy

Received March 19, 2012
Accepted October 10, 2012

This report describes the usefulness of the BAC genome array-CGH platform in the detection of cryptic rearrangements. We examined ten patients with normal and/or abnormal karyotypes and dysmorphic features, associated with mental retardation, autism and/or epilepsy. This approach led us to discover further cryptic chromosomal rearrangements, not previously detected by conventional cytogenetic procedures, and allowed us to better delineate genotype/phenotype correlation. Our experience shows the validity of the BAC platform as a reliable method for genome-wide screening of chromosomal aberrations in patient with idiopathic mental retardation and/or in association with autism and epilepsy.

References

11 live references

Open full article