A case of polimalformed fetus with a microdeletion of CTNNA3 gene
Case report, 20 - 22Tag this article
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.
KEY WORDS: chomosomic microdeletion, plurimalformed syndrome, microarray DNA analysis, prenatal diagnosis, new syndrome.