Craniosynostosis associated with distal 5q-trisomy: Further evidence that extra copy of MSX2 gene leads to craniosynostosis

✍ Scribed by Jia-Chi Wang; Michelle Steinraths; Linda Dang; Brenda Lomax; Patrice Eydoux; Tracy Stockley; Siu-Li Yong; Margot I. Van Allen

• Publisher: John Wiley and Sons
• Year: 2007
• Tongue: English
• Weight: 200 KB
• Volume: 143A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.31946

✦ Synopsis

Abstract

Distal 5q‐trisomy has been reported in less than 30 patients, with craniosynostosis present in five. We report two new patients with distal 5q‐trisomy craniosynostosis. Patient 1 had mild Kleeblattschädel with synostosis of multiple sutures together with wide and medially deviated thumbs and halluces, indicative of Pfeiffer syndrome. Cytogenetic and CGH analyses showed a karyotype of 46,XY,der(10)t(5;10)(q33;q26.3). Patient 2 had a prominent forehead and ridging of the metopic suture. Craniosynostosis of the metopic suture was shown by CT scan. Cytogenetic and CGH analyses disclosed a karyotype of 46,XX,der(17)t(5;17)(q35.1;p13.3). Of the 22 previously reported patients, all had microcephaly and 14 had an abnormal skull shape. Our results support the previous finding that distal 5q‐trisomy together with an extra copy of the MSX2 gene leads to abnormal closure of sutures and craniosynostosis. © 2007 Wiley‐Liss, Inc.