Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes.

We analysed parental origin and X inactivation status of X derived marker (mar(X)) or ring X (r(X)) chromosomes in six Turner syndrome patients. Two of these patients had mental retardation of unknown cause in addition to the usual Turner syndrome phenotype. By FISH analysis, the mar(X)/r(X) chromos...

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Autori principali: Yorifuji, T, Muroi, J, Kawai, M, Uematsu, A, Sasaki, H, Momoi, T, Kaji, M, Yamanaka, C, Furusho, K
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1998
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051363/
https://ncbi.nlm.nih.gov/pubmed/9678697
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