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  Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis

Kariminejad, A., Kariminejad, R., Tzschach, A., Ullmann, R., Ahmed, A., Asghari-Roodsari, A., et al. (2009). Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis. American Journal of Medical Genetics Part A, 149(7), 1544-1549. doi:10.1002/ajmg.a.32949.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7D60-E Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7D61-C
Genre: Journal Article
Alternative Title : Am J Med Genet

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 Creators:
Kariminejad, Ariana, Author
Kariminejad, Roxana, Author
Tzschach, Andreas1, Author              
Ullmann, Reinhard2, Author              
Ahmed, Alisho2, Author              
Asghari-Roodsari, Alaleh, Author
Salehpour, Shadab, Author
Afroozan, Fariba, Author
Ropers, Hans-Hilger1, Author              
Kariminejad, Mohammad Hasan, Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

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Free keywords: Craniosynostosis; Extra copy of MSX2; del2q37.3dup5q34; Array comparative genomic hybridization (array CGH)
 Abstract: We report on a 1-year-old boy with craniosynostosis, microcephaly, developmental delay and dysmorphic features. Chromosomal studies of the proband showed 46,XY,add(2)(q37)dn and those of the parents were normal. The rearranged material in the patient was further defined using array comparative genomic hybridization (array CGH), which revealed loss of 2Mb distal to 2q37.3 and duplication of 15Mb from 5q34 qter. Fluorescence in situ hybridization (FISH) studies using subtelomeric 2q and 5q probes showed the 2q deletion and 5q duplication resulting from a rearrangement of the segment from 5q onto the long arm of chromosome 2. FISH studies of the parents did not show any rearrangement. Recently it has been proposed that an extra copy of MSX2 that maps to 5q35.2 causes premature synostosis of the sutures via the MSX2-mediated pathway of calvarial osteogenic differentiation. Our case further supports the role of MSX2 duplication in the etiology of craniosynostosis.

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Language(s): eng - English
 Dates: 2009-07
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Degree: -

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Title: American Journal of Medical Genetics Part A
  Alternative Title : Am J Med Genet
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 149 (7) Sequence Number: - Start / End Page: 1544 - 1549 Identifier: ISSN: 1552-4825