Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus.
作者信息
Tessier Aude, Callier Patrick, LeMeur Nathalie, Frebourg Thierry, Sabourin Jean-Christophe, Patrier Sophie
机构信息
1 Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée et Service de Génétique, CHU Charles Nicolle, Rouen, France.
2 Service d'anatomopathologie, CHU Charles Nicolle, Rouen, France.
出版信息
Pediatr Dev Pathol. 2019 Mar-Apr;22(2):146-151. doi: 10.1177/1093526618799293. Epub 2018 Sep 7.
We report a male fetus with a 6.8 Mb 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.
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