Article
Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2006
Oldak M, Waligora J, Gieruszczak-Bialek D, Skorka A, Bocian E, Brycz-Witkowska J, Stankiewicz P, Korniszewski L
Abstract excerpt
The frequency of small supernumerary marker chromosomes has been estimated to approximately 0.45 per 1000 newborns. They are usually seen as single marker chromosomes in a mosaic state. Two cytogenetically identical markers have been observed only occasionally. We report on a boy, with congenital heart defect, neonatal hypotonia, hypogenitalism, delayed psychomotor development and mild dysmorphic facial features....
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