Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication

Laura Bernardini, Marco Castori, Anna Capalbo, Vahe Mokini, Rita Mingarelli, Paolo Simi, Alice Bertuccelli, Antonio Novelli, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review


Craniosynostosis is a common birth defect (∼1/3,000 births) resulting from chromosome imbalances, gene mutations or unknown causes. We report a 6-month-old female with multiple sutural synostosis and prenatal onset growth deficiency, developmental delay, facial dysmorphism, congenital heart defect, and inguinal hernia. An integrated approach of standard cytogenetics, mBAND, locus-specific FISH, and 75 kb resolution array-CGH disclosed a complex chromosome 5 rearrangement, resulting in 3 paracentric inversions, 2 between-arm insertions, and partial duplication of 5q35. An extra copy of the MSX2 gene, which maps within the duplicated segment and is mutated in Boston-type craniosynostosis, was confirmed by molecular cytogenetic studies. Our study confirms that early fusion of cranial sutures commonly observed in the dup(5q) syndrome is caused by triplication of the MSX2 gene and strongly supports the crucial role of this gene in the development of craniofacial structures.

Original languageEnglish
Pages (from-to)2937-2943
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number24
Publication statusPublished - Dec 15 2007


  • Array-CGH
  • Chromosome 5
  • Complex chromosome rearrangement
  • Craniosynostosis
  • MSX2

ASJC Scopus subject areas

  • Genetics(clinical)


Dive into the research topics of 'Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication'. Together they form a unique fingerprint.

Cite this