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

E. A. Lindsay, L. G. Shaffer, R. Carrozzo, F. Greenberg, A. Baldini

Research output: Contribution to journalArticle

28 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)296-299
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume56
Issue number3
DOIs
Publication statusPublished - 1995

Fingerprint

Chromosome Duplication
DiGeorge Syndrome
Satellite DNA
Ewing's Sarcoma
Gene Dosage
Genetic Markers
Cytogenetics
Cats
Schmid-Fraccaro syndrome

Keywords

  • cat-eye syndrome
  • chromosome 22 duplication
  • congenital heart defect

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

De novo tandem duplication of chromosome segment 22q11-q12 : Clinical, cytogenetic, and molecular characterization. / Lindsay, E. A.; Shaffer, L. G.; Carrozzo, R.; Greenberg, F.; Baldini, A.

In: American Journal of Medical Genetics, Vol. 56, No. 3, 1995, p. 296-299.

Research output: Contribution to journalArticle

Lindsay, E. A. ; Shaffer, L. G. ; Carrozzo, R. ; Greenberg, F. ; Baldini, A. / De novo tandem duplication of chromosome segment 22q11-q12 : Clinical, cytogenetic, and molecular characterization. In: American Journal of Medical Genetics. 1995 ; Vol. 56, No. 3. pp. 296-299.
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