Literature DB >> 1746608

Chromosome 7p--syndrome: craniosynostosis with preservation of region 7p2.

D J Aughton1, S B Cassidy, D A Whiteman, J A Delach, A E Guttmacher.   

Abstract

Deletion of a portion of the short arm of chromosome 7 is associated with a recognizable phenotype which often includes craniosynostosis. Recent reports have suggested that craniosynostosis occurs only if there is a deletion involving band 7p21 or the segment distal to that band. We report on a boy who had an interstitial deletion of 7p, not involving band 7p21 or the segment distal to that band, who nevertheless had craniosynostosis. Thus, it appears that the determination of craniosynostosis in this syndrome is more complicated than has been suggested previously.

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Year:  1991        PMID: 1746608     DOI: 10.1002/ajmg.1320400412

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

1.  Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl.

Authors:  A Caiulo; B Bardoni; G Camerino; S Guioli; A Minelli; M Piantanida; F Crosato; T Dalla Fior; P Maraschio
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132

Review 2.  Saethre-Chotzen syndrome.

Authors:  W Reardon; R M Winter
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

3.  Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter.

Authors:  W Reardon; L van Herwerden; C Rose; B Jones; S Malcolm; R M Winter
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

4.  Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases.

Authors:  Ashutosh Halder; Manish Jain; Madhulika Kabra; Neerja Gupta
Journal:  Mol Cytogenet       Date:  2008-08-10       Impact factor: 2.009

  4 in total

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