Familial partial trisomy 8p without dysmorphic features and only mild mental retardation

We report on a mother and her two sons who had a direct duplication of chromosome region 8p22-8p23.1 without dysmorphic features and only mild mental retardation. The patients have been studied using G banding, chromosome painting, and FISH using cosmid probes specific for the region 8p23.1-8pter. C...

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Autors principals: Engelen, J J M, Die-Smulders, C E M de, Sijstermans, J M J, Meers, L E C, Albrechts, J C M, Hamers, A J H
Format: Artigo
Idioma:Inglês
Publicat: 1995
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051702/
https://ncbi.nlm.nih.gov/pubmed/8558557
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