De novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic, and molecular characterization.

Abstract

We report on a case of duplication of the segment 22q11-q12 due to a de novo duplication. Molecular cytogenetics studies demonstrated this to be a tandem duplication, flanked proximally by the marker D22Z4, a centromeric alpha satellite DNA repeat, and distally by D22S260, an anonymous DNA marker proximal to the Ewing sarcoma breakpoint. The segment includes the regions responsible for the "cat-eye," Di George, and velo-cardio-facial syndromes and extends distal to the breakpoint cluster region (BCR). The clinical picture is dominated by the cardiac defects and includes findings reminiscent of "cat-eye" syndrome. These findings reinforce the hypothesis that the proximal 22q region contains dosage-sensitive genes involved in development.

• Authors: E A Lindsay, L G Shaffer, R Carrozzo, F Greenberg, A Baldini
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 56 Issue 3 Pg. 296-9 (Apr 10 1995) ISSN: 0148-7299 [Print] United States
• PMID: 7778594 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Topics

• Chromosome Aberrations (genetics)
• Chromosome Disorders
• Chromosomes, Human, Pair 22 (genetics)
• Female
• Heart Defects, Congenital (genetics)
• Humans
• In Situ Hybridization, Fluorescence
• Infant, Newborn
• Karyotyping
• Syndrome