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Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.
We report on the characterisation of a complex chromosome rearrangement, 46,X,del(Xq)/47,X,del(Xq),+r(X), in a female newborn with multiple malformations. Cytogenetic and molecular methods showed that the del(Xq) contains the XIST locus and is non-randomly inactivated in all metaphases. The tiny r(X...
Αποθηκεύτηκε σε:
Κύριοι συγγραφείς: | , , , , , , |
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Μορφή: | Artigo |
Γλώσσα: | Inglês |
Έκδοση: |
1998
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Θέματα: | |
Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1051487/ https://ncbi.nlm.nih.gov/pubmed/9832041 |
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