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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 472586.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis
Authors:Kariminejad, Ariana; Kariminejad, Roxana; Tzschach, Andreas; Ullmann, Reinhard; Ahmed, Alisho; Asghari-Roodsari, Alaleh; Salehpour, Shadab; Afroozan, Fariba; Ropers, Hans-Hilger; Kariminejad, Mohammad Hasan
Language:English
Date of Publication (YYYY-MM-DD):2009-07
Title of Journal:American Journal of Medical Genetics Part A
Journal Abbrev.:Am J Med Genet
Volume:149
Issue / Number:7
Start Page:1544
End Page:1549
Copyright:© 2009 Wiley-Liss, Inc.
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Free Keywords:Craniosynostosis; Extra copy of MSX2; del2q37.3dup5q34; Array comparative genomic hybridization (array CGH)
Comment of the Author/Creator:email: Ariana Kariminejad (arianakariminejad@yahoo.com)
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran
Identifiers:DOI:10.1002/ajmg.a.32949
ISSN:1552-4825
URL:http://www3.interscience.wiley.com/cgi-bin/fulltex...
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