Mosaic vs. nonmosaic trisomy 9: Report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature

✍ Scribed by Cantú, Eduardo S.; Eicher, Dorothea Jenkins; Shashidhar Pai, G.; Donahue, Christopher J.; Harley, Russell A.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 51 KB
• Volume: 62
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960424)62:4<330::aid-ajmg1>3.0.co;2-v

✦ Synopsis

We report on a newborn infant with multiple congenital anomalies and apparent nonmosaic trisomy 9 in the blood (by conventional cytogenetic studies) who died shortly after birth. Clinical observations at birth and autopsy are compared with phenotypes of mosaic and nonmosaic trisomy 9 cases reported previously. Unlike the initial cytogenetic analysis, fluorescence in situ hybridization (FISH) studies of metaphase and interphase blood cells and skin fibroblasts detected the presence of euploid and trisomy 9 cells. These results suggest that earlier reports of trisomy 9, which relied on conventional chromosome analysis of a few metaphase cells andor only one tissue type, may not have excluded mosaicism, and that trisomy 9 may be viable only in the mosaic state.