Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion
Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
The 17p11.2p12 locus is an unstable region that is predisposed to several known genomic disorders and non-recurrent rearrangements that yield varied and wide-ranging phenotypes. Nearly 1% of male newborns have deletions in the Y chromosome; these events primarily involve the heterochromatic region, but may extend to euchromatic Yq segments containi...
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Full title
Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion
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TN_cdi_doaj_primary_oai_doaj_org_article_cd5e458f31fd459084d216370636ff00
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_cd5e458f31fd459084d216370636ff00
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ISSN
1755-8166
E-ISSN
1755-8166
DOI
10.1186/s13039-019-0438-0
