Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal i...
Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report
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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
Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotypic features. We report on a patient with various clinical malformations and developmental delay in connection with an inverted duplication ev...
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Full title
Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report
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TN_cdi_doaj_primary_oai_doaj_org_article_791b192dd14c4a61a256dbb83b1eb866
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_791b192dd14c4a61a256dbb83b1eb866
Other Identifiers
ISSN
1755-8166
E-ISSN
1755-8166
DOI
10.1186/1755-8166-2-14
