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

Jill K Northup; Reuben Matalon; Lillian H Lockhart; Judy C Hawkins; Gopalrao V N Velagaleti

doi:10.1016/j.ejmg.2011.03.011

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

Eur J Med Genet. 2011 Jul-Aug;54(4):e394-8. doi: 10.1016/j.ejmg.2011.03.011. Epub 2011 Apr 3.

Authors

Jill K Northup¹, Reuben Matalon, Lillian H Lockhart, Judy C Hawkins, Gopalrao V N Velagaleti

Affiliation

¹ Department of Pathology, University of Texas Medical Branch, Galveston, TX 78229, USA.

PMID: 21466863
DOI: 10.1016/j.ejmg.2011.03.011

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.

Publication types

Case Reports

MeSH terms

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

Substances

Core Binding Factor Alpha 1 Subunit