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

Autor:	E S, Cantú, D J, Eicher, G S, Pai, C J, Donahue, R A, Harley
Rok vydání:	1996
Předmět:	Adult Male Fatal Outcome Mosaicism Infant Newborn Humans Abnormalities Multiple Female Trisomy Autopsy Chromosomes Human Pair 9 In Situ Hybridization
Zdroj:	American journal of medical genetics. 62(4)
ISSN:	0148-7299
Popis:	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 and/or only one tissue type, may not have excluded mosaicism, and that trisomy 9 may be viable only in the mosaic state.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::2035315a6fe1245a8f80db3bed87e5bb https://pubmed.ncbi.nlm.nih.gov/8723059 Zobrazit plný text záznamu Plný text