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


Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society


Membres identifiés du Cancéropôle Est :
Pr CALLIER Patrick

Tous les auteurs :
Tessier A, Callier P, LeMeur N, Frebourg T, Sabourin JC, Patrier S


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


Pediatr. Dev. Pathol.. 2018 Sep 7;:1093526618799293