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Characterisation of X;17(q12;p13) translocation breakpoints in a female patient with hypomelanosis of Ito and choroid plexus papilloma.

Abstract:

An X;17 translocation breakpoint was characterised in a 5-year-old female with hypomelanosis of Ito (HI) who exhibits characteristic hypopigmented lesions, psychomotor retardation, and choroid plexus papilloma. A YAC clone containing the locus DXS1 from Xq12 was found by fluorescence in situ hybridisation to cross the translocation breakpoint. Cosmid clones positive for DXS1 were used to identify and clone the translocation junction fragment from the patient's DNA. A chromosome-17-specific DN...

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Publication status:
Published

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Journal:
European journal of human genetics : EJHG More from this journal
Volume:
5
Issue:
2
Pages:
61-68
Publication date:
1997-01-01
EISSN:
1476-5438
ISSN:
1018-4813

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