A case of polimalformed fetus with a microdeletion of CTNNA3 gene

A case of polimalformed fetus with a microdeletion of CTNNA3 gene

We report a case of a male fetus of 20 weeks of gestation with plurimalformed observed by transonic scan and confirmed by MR. The karyotype was 46, XY. Molecular analysis showed a microdeletion of about 100 kb in the CTNNA3 gene

Bibliographische Detailangaben
Veröffentlicht in:Journal of prenatal medicine. - 2007. - 10(2016), 3-4 vom: 22. Juli, Seite 20-22
1. Verfasser: Cancemi, Dino (VerfasserIn)
Weitere Verfasser: Urciuoli, Maria, Morelli, Franco, Lonardo, Maria Concetta, Lonardo, Valeria, Spampanato, Carmine, Ventruto, Marialuisa, Ventruto, Valerio, Sica, Carmine
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2016
Zugriff auf das übergeordnete Werk:Journal of prenatal medicine
Schlagworte:Case Reports chomosomic microdeletion microarray DNA analysis new syndrome plurimalformed syndrome prenatal diagnosis
Beschreibung
Zusammenfassung:We report a case of a male fetus of 20 weeks of gestation with plurimalformed observed by transonic scan and confirmed by MR. The karyotype was 46, XY. Molecular analysis showed a microdeletion of about 100 kb in the CTNNA3 gene
Beschreibung:Date Revised 01.10.2020
published: Print
Citation Status PubMed-not-MEDLINE
ISSN:1971-3282
DOI:10.11138/jpm/2016.10.3.020