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 prenatal testing
About this item
Full title
Author / Creator
Zhang, Fang , Yin, Ting , Tang, Xinxin , Ma, Shanshan , Meng, Qian , Song, Jiedong , Wang, Yongan , Men, Shuai and Wang, Leilei
Publisher
New York: Springer US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Springer US
Subjects
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
Authors, Artists and Contributors
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