Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence
- Univ. of Chicago, IL (United States)
- Rush Presbyterian St. Luke`s Medical Center, Chicago, IL (United States)
Duplications of chromosome 9q are rare. The authors describe the cytogenetic and phenotypic findings in 2 patients, one with a large duplication covering most of 9q (q12-q33.2) and one with a smaller duplication (q21.12-q22.1) who had Di George sequence (DGS). The chromosome 9 origin of the extra material in the second case was confirmed by fluorescence in situ hybridization (FISH) analysis with a whole chromosome 9 paint. Microdeletions of chromosome 22 are common in DGS and have been reported in CHARGE association. This is the first report of an association of a chromosome 9 abnormality with DGS in the absence of a chromosome 22 abnormality and the seventh report of a patient with a duplication of a large portion of 9q (q11-q13 to q32-q33). 31 refs., 4 figs., 1 tab.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 86474
- Journal Information:
- American Journal of Medical Genetics, Vol. 49, Issue 1; Other Information: PBD: 1 Jan 1994
- Country of Publication:
- United States
- Language:
- English
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