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Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive p...

Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive p...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10440312

Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing

About this item

Full title

Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing

Publisher

New York: Springer US

Journal title

Journal of assisted reproduction and genetics, 2023-09, Vol.40 (9), p.2233-2240

Language

English

Formats

Publication information

Publisher

New York: Springer US

More information

Scope and Contents

Contents

Purpose
To report a rare type of Pallister-Killian syndrome (PKS) diagnosed prenatally by the utility of non-invasive prenatal testing (NIPT).
Methods
NIPT was performed in the first trimester. Conventional karyotyping and chromosomal microarray analysis (CMA) were performed on the amniotic samples in the second trimester. Copy number vari...

Alternative Titles

Full title

Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10440312

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10440312

Other Identifiers

ISSN

1058-0468,1573-7330

E-ISSN

1573-7330

DOI

10.1007/s10815-023-02896-8

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