title: Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis.
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.
authors.affiliation: Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada. wangj@hhsc.ca
authors.forename: Jia-Chi
authors.initials: JC
authors.lastname: Wang
authors.forename: Michelle
authors.initials: M
authors.lastname: Steinraths
authors.forename: Linda
authors.initials: L
authors.lastname: Dang
authors.forename: Brenda
authors.initials: B
authors.lastname: Lomax
authors.forename: Patrice
authors.initials: P
authors.lastname: Eydoux
authors.forename: Tracy
authors.initials: T
authors.lastname: Stockley
authors.forename: Siu-Li
authors.initials: SL
authors.lastname: Yong
authors.forename: Margot I
authors.initials: MI
authors.lastname: Van Allen
mesh_terms: D002871:Chromosome Banding; D002895:Chromosomes, Human, Pair 5; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D019066:Facies; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics; D009693:Nucleic Acid Hybridization; D014314:Trisomy
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; C084119:MSX2 protein