Literature DB >> 2368808

Craniosynostosis in an infant with an interstitial deletion of 15q [46,XY,del(15)(q15q22.1)].

Y Fukushima1, K Wakui, T Nishida, H Nishimoto.   

Abstract

An interstitial deletion of 15q [46,XY,del(15)(q15q22.1)] was found in a malformed infant with craniosynostosis. Although the parents had normal chromosomes, the study of heteromorphic markers of chromosome 15 showed that the deleted chromosome 15 was of paternal origin. The 2 previously reported cases with an interstitial deletion of the middle portion of 15q were not complicated with craniosynostosis, and their deleted region did not include 15q15 band. The deletion of chromosome band 15q15 might be responsible for craniosynostosis.

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Year:  1990        PMID： 2368808     DOI： 10.1002/ajmg.1320360214

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


  5 in total

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Authors:  Gábor Mátyás; Sira Alonso; Andrea Patrignani; Myriam Marti; Eliane Arnold; István Magyar; Caroline Henggeler; Thierry Carrel; Beat Steinmann; Wolfgang Berger
Journal:  Hum Genet       Date:  2007-05-10       Impact factor: 4.132

2.  Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

Authors:  Jacqueline A C Goos; Aimee L Fenwick; Sigrid M A Swagemakers; Simon J McGowan; Samantha J L Knight; Stephen R F Twigg; A Jeannette M Hoogeboom; Marieke F van Dooren; Frank J Magielsen; Steven A Wall; Irene M J Mathijssen; Andrew O M Wilkie; Peter J van der Spek; Ans M W van den Ouweland
Journal:  Hum Mutat       Date:  2016-06-02       Impact factor: 4.878

3.  TCF12 microdeletion in a 72-year-old woman with intellectual disability.

Authors:  Juliette Piard; Virginie Rozé; Alain Czorny; Marion Lenoir; Mylène Valduga; Aimée L Fenwick; Andrew O M Wilkie; Lionel Van Maldergem
Journal:  Am J Med Genet A       Date:  2015-04-13       Impact factor: 2.802

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

5.  Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).

Authors:  Seema R Lalani; Trilochan Sahoo; Merideth E Sanders; Sarika U Peters; Bassem A Bejjani
Journal:  BMC Med Genet       Date:  2006-02-10       Impact factor: 2.103
  5 in total

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