Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2016 Jul-Dec;10(3-4):20-22.
doi: 10.11138/jpm/2016.10.3.020.

A case of polimalformed fetus with a microdeletion of CTNNA3 gene

Dino Cancemi  1 , Maria Urciuoli  2 , Franco Morelli  3 , Maria Concetta Lonardo  4 , Valeria Lonardo  4 , Carmine Spampanato  5 , Marialuisa Ventruto  6 , Valerio Ventruto  7 , Carmine Sica  8
Affiliations
Case Reports

A case of polimalformed fetus with a microdeletion of CTNNA3 gene

Dino Cancemi et al. J Prenat Med. 2016 Jul-Dec.

Abstract

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.

Keywords: chomosomic microdeletion; microarray DNA analysis; new syndrome; plurimalformed syndrome; prenatal diagnosis.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Ecographic data. A, B) Aspects of the face; the vascular picture in 2 is the pericallosal artery; C, D) Toracic spinal column; E, F) Single umbilical artery; G) Left cistic kidney; H) Right ectopic kidney.
See this image and copyright information in PMC

References

    1. Janssens B, Goossens S, Staes K, Gilbert B, van Hengel J, Colpaert C, Bruyneel E, Mareel M, van Roy F. Alpha-T-catenin: a novel tissue-specific beta-catenin-binding protein mediating strong cell-cell adhesion. J Cell Sci. 2001;114:3177–3188. - PubMed

    1. Online Mendelian Inheritance in Man OMIM 607667.

    1. van Hengel J, Calore M, Bauce B, Dazzo E, Mazzotti E, De Bortoli M, Lorenzon A, Li Mura IEA, Beffagna G, Rigato I, Vleeschouwers M, Tyberghein K, et al. Mutations in the area composita protein alpha-T-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. Europ Heart J. 2013;34:201–210. - PubMed

    1. Online Mendelian Inheritance in Man OMIM 615616.

    1. Online Mendelian Inheritance in Man OMIM V94D; 607667.0001.

Publication types

LinkOut - more resources