Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus
| Affiliation auteurs | !!!! Error affiliation !!!! |
| Titre | Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus |
| Type de publication | Journal Article |
| Year of Publication | 2019 |
| Auteurs | Tessier A, Callier P, Le Meur N, Frebourg T, Sabourin J-C, Patrier S |
| Journal | PEDIATRIC AND DEVELOPMENTAL PATHOLOGY |
| Volume | 22 |
| Pagination | 146-151 |
| Date Published | MAR-APR |
| Type of Article | Article |
| ISSN | 1093-5266 |
| Mots-clés | 1p22, 3 deletion, 7p22, great arteries malposition, RAC1, radial ray deficiency, SNX8 |
| 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. |
| DOI | 10.1177/1093526618799293 |