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This report describes the usefulness of the BAC genome array-CGHplatform in the detection of cryptic rearrangements. We examined ten patientswith normal and/or abnormal karyotypes and dysmorphic features, associated withmental retardation, autism and/or epilepsy. This approach led us to discover furthercryptic chromosomal rearrangements, not previously detected by conventionalcytogenetic procedures, and allowed us to better delineate genotype/phenotypecorrelation. Our experience shows the validity of the BAC platform as a reliablemethod for genome-wide screening of chromosomal aberrations in patient withidiopathic mental retardation and/or in association with autism and epilepsy.

prague medical report

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