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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Detalles Bibliográficos
Autores principales: Houge, Gunnar, Lybæk, Helle, Gulati, Sasha
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2691399/
https://www.ncbi.nlm.nih.gov/pubmed/19445731
http://dx.doi.org/10.1186/1471-2350-10-42

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2691399/
https://www.ncbi.nlm.nih.gov/pubmed/19445731
http://dx.doi.org/10.1186/1471-2350-10-42

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