Article
Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: a result of failed tetraploidy correction?
BMC medical genetics - 18 May 2009
Houge Gunnar, Lybaek Helle, Gulati Sasha
Abstract excerpt
BACKGROUND: Mosaic whole-chromosome tetrasomy has not previously been described as a cause of fetal malformations. CASE PRESENTATION: In a markedly dysmorphic child with heart malformations and developmental delay, CGH analysis of newborn blood DNA suggested a 50% dose increase of chromosomes 8 and 18, despite a normal standard karyotype investigation. Subsequent FISH analysis revealed leukocytes with four...
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