An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito

We report on a familial submicroscopic translocation involving chromosomes 8 and 16. The proband of the family had a clinical picture suggestive of a large deletion in the chromosome 16p13.3 area, as he was affected with tuberous sclerosis complex (TSC) and had α thalassaemia trait, and his half bro...

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Main Authors: Eussen, B., Bartalini, G., Bakker, L., Balestri, P., Di, L, Van Hemel, J. O, Dauwerse, H., van den Ouweland, A. M W, Ris-Stalpers, C., Verhoef, S., Halley, D., Fois, A.
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Group 2000
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Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734565/
https://ncbi.nlm.nih.gov/pubmed/10745047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.4.287
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