Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus.
Fiche publication
Date publication
septembre 2018
Journal
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CALLIER Patrick
Tous les auteurs :
Tessier A, Callier P, LeMeur N, Frebourg T, Sabourin JC, Patrier S
Lien Pubmed
Résumé
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.
Mots clés
, 7p22.1p22.3 deletion, great arteries malposition, radial ray deficiency
Référence
Pediatr. Dev. Pathol.. 2018 Sep 7;:1093526618799293