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Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis

We report on a patient with severe mental retardation, dysmorphic features as well as juvenile idiopathic arthritis. G-banding indicated two independent karyotypic anomalies in this patient: an interstitial deletion del(X)(p21p22.3) and a rearrangement involving chromosomes 1 and 7, which represents...

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Detalhes bibliográficos
Main Authors: Leybrand, Sabine, Rossier, Eva, Barbi, Gotthold, Cooper, David N., Kehrer-Sawatzki, Hildegard
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2007
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2276891/
https://ncbi.nlm.nih.gov/pubmed/18923930
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11568-007-9008-3
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