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Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction?

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...

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Hlavní autoři: Houge, Gunnar, Lybæk, Helle, Gulati, Sasha
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2009
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2691399/
https://ncbi.nlm.nih.gov/pubmed/19445731
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-10-42
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