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Updated: Aug 8, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker
M Oldak1, J Waligora, D Gieruszczak-Bialek
1Department of Pediatric Diabetology, Neonatology and Birth Defects, Medical University of Warsaw, Dzialdowska 1, PL-01-184 Warsaw, Poland. Monika.Oldak@ib.amwaw.edu.pl
Abstract:
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. The GTG karyotype performed on peripheral blood lymphocytes revealed a mosaic male karyotype with three cell lines. One cell line had a normal karyotype. In the other two either single or double chromosome 6 derived supernumerary markers were present, leading to partial trisomy or partial tetrasomy of chromosome 6, respectively.
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