A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia.

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.

• Authors: Jill K Northup, Reuben Matalon, Lillian H Lockhart, Judy C Hawkins, Gopalrao V N Velagaleti
• Journal: European journal of medical genetics (Eur J Med Genet) 2011 Jul-Aug Vol. 54 Issue 4 Pg. e394-8 ISSN: 1878-0849 [Electronic] Netherlands
• PMID: 21466863 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Chemical References

• Core Binding Factor Alpha 1 Subunit

Topics

• Chromosome Aberrations
• Chromosome Banding
• Chromosomes, Human, Pair 6 (genetics)
• Cleidocranial Dysplasia (diagnosis, genetics)
• Comparative Genomic Hybridization
• Core Binding Factor Alpha 1 Subunit (genetics)
• Female
• Humans
• In Situ Hybridization, Fluorescence
• Infant
• Phenotype