%0 Journal Article
%T Postmortem Diagnosis of Heart
%A Aude Tessier
%A Jean-Christophe Sabourin
%A Nathalie LeMeur
%A Patrick Callier
%A Sophie Patrier
%A Thierry Frebourg
%J Pediatric and Developmental Pathology
%@ 1615-5742
%D 2019
%R 10.1177/1093526618799293
%X We report a male fetus with a 6.8£żMb deletion on chromosome 7p22.1p22.3 at 16 weeks of gestation. The fetus presented a heart-hand syndrome with great artery malposition, bilateral radial ray deficiency, a single pelvic kidney, and growth retardation. This deletion involves a minimal deleted region for cardiac malformation and the RAC1 gene, previously described in limb anomalies in mice. This fetus is the third human case with limb defects and RAC1 deletion
%K 7p22.1p22.3 deletion
%K great arteries malposition
%K radial ray deficiency
%K RAC1
%K SNX8
%U https://journals.sagepub.com/doi/full/10.1177/1093526618799293