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
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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Karolinum Press
2012-01-01
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| Series: | Prague Medical Report |
| Subjects: | |
| Online Access: | https://pmr.lf1.cuni.cz/113/4/0279/ |