Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15
Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15
About this item
Full title
Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15
Author / Creator
Journal title
Molecular cytogenetics, 2017, Vol.10, p.38-38
Language
English
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Scope and Contents
Contents
BACKGROUNDRing chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the breakpoints, haploinsufficiency of genes involved in deleted segment/s, level of mosaicism and ring instability resulting in a var...
Alternative Titles
Full title
Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1958544138
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1958544138
Other Identifiers
ISSN
1755-8166
E-ISSN
1755-8166
DOI
10.1186/s13039-017-0339-z
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