Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal ph...
Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype
About this item
Full title
Author / Creator
Zhou, Yaqing , Zhang, Mingxi , Zhu, Yanmin and Zhao, Qi
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. CNVs identified in prenatal cases need careful considerations and correct interpretation if those are harmless or harmful variants from the norm.
A 28-year-old, gravida 1, para 0, woman underwent amniocentesis at 17 weeks of gestation because the noni...
Alternative Titles
Full title
Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype
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Author / Creator
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_ddc4898ba3ff4a6aaf3e8711020521e4
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ddc4898ba3ff4a6aaf3e8711020521e4
Other Identifiers
ISSN
1755-8166
E-ISSN
1755-8166
DOI
10.1186/s13039-022-00626-w
