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Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report...

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_54f067df6ad74a9ab42f6b45920435c6

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature

About this item

Full title

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature

Publisher

England: BioMed Central Ltd

Journal title

Journal of medical case reports, 2022-12, Vol.16 (1), p.481-481, Article 481

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Chromosome 13q deletion syndrome shows variable clinical features related to the different potential breakpoints in chromosome 13q. The severely malformed phenotype is known to be associated with the deletion of a critical region in 13q32. However, esophageal atresia is a rare symptom and the relevant region is unknown. Thus, determining the associ...

Alternative Titles

Full title

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_54f067df6ad74a9ab42f6b45920435c6

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_54f067df6ad74a9ab42f6b45920435c6

Other Identifiers

ISSN

1752-1947

E-ISSN

1752-1947

DOI

10.1186/s13256-022-03713-z

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