De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder

✍ Scribed by James Lespinasse; M. Bugge; M.O. Réthoré; M.O. North; C. Lundsteen; M. Kirchhoff

• Publisher: John Wiley and Sons
• Year: 2004
• Tongue: English
• Weight: 143 KB
• Volume: 128A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.30064

✦ Synopsis

Abstract

A 23‐year‐old obese woman with a psychotic disorder was found to have a de novo apparently balanced complex chromosomal rearrangement involving chromosomes 1, 5, and 6. Molecular cytogenetic analyses using high‐resolution comparative genomic hybridization (HR‐CGH) showed a microdeletion at 6q14 in a der(6). Application of HR‐CGH facilitated detection of micro‐rearrangement of all de novo apparently balanced complex chromosomal rearrangements (CCR) and supported the localization of the breakpoint. According to our knowledge, no constitutional interstitial microdeletion of chromosome 6q14 has been found associated with a schizoid‐type phenotype. © 2004 Wiley‐Liss, Inc.