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Should We Report 15q11.2 BP1-BP2 Deletions and Duplications in the Prenatal Setting?

Should We Report 15q11.2 BP1-BP2 Deletions and Duplications in the Prenatal Setting?

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7463673

Should We Report 15q11.2 BP1-BP2 Deletions and Duplications in the Prenatal Setting?

About this item

Full title

Should We Report 15q11.2 BP1-BP2 Deletions and Duplications in the Prenatal Setting?

Publisher

Basel: MDPI AG

Journal title

Journal of clinical medicine, 2020-08, Vol.9 (8), p.2602

Language

English

Formats

Publication information

Publisher

Basel: MDPI AG

More information

Scope and Contents

Contents

Copy number variations of the 15q11.2 region at breakpoints 1-2 (BP1-BP2) have been associated with variable phenotypes and low penetrance. Detection of such variations in the prenatal setting can result in significant parental anxiety. The clinical significance of pre- and postnatally detected 15q11.2 BP1-BP2 deletions and duplications was assesse...

Alternative Titles

Full title

Should We Report 15q11.2 BP1-BP2 Deletions and Duplications in the Prenatal Setting?

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7463673

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7463673

Other Identifiers

ISSN

2077-0383

E-ISSN

2077-0383

DOI

10.3390/jcm9082602

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