Abstract
Complex chromosome rearrangements (CCRs) are structural abnormalities involving >2 chromosomes or >3 breakpoints. It has been suggested that the probability of imbalance increases as the number of breakpoints increase. Here we report a 7-month-old, Hispanic girl presenting with cleidocranial dysplasia (CCD) who was found to have a complex chromosome rearrangement of chromosome 6. Fluorescence in situ hybridization studies with bacterial artificial chromosome (BAC) clones showed that the rearrangement involved insertion of 6q into 6p disrupting the " Runt related transcription factor 2 (RUNX2)" gene at chromosome 6p21.1. In addition, a pericentric inversion of chromosome 6 was identified. Despite the complex nature of the rearrangement, no cryptic deletions or duplications could be detected by array comparative genomic hybridization.
Original language | English (US) |
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Pages (from-to) | e394-e398 |
Journal | European Journal of Medical Genetics |
Volume | 54 |
Issue number | 4 |
DOIs | |
State | Published - Jul 2011 |
Externally published | Yes |
Keywords
- ACGH
- Cleidocranial dysplasia
- FISH
- Insertion
- Inversion
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)