Literature DB >> 3487273

De novo del(7)(pter----p21.2::p15.2----qter) and craniosynostosis. Implications for critical segment assignment in the 7p2 monosomy syndrome.

L García-Esquivel, D García-Cruz, H Rivera, M L Plascencia, J M Cantú.   

Abstract

A 4 year-old boy was found to have a typical 7p2 monosomy syndrome, including craniosynostosis, due to a de novo del(7)(pter----p21.2::p15.2----qter). It is concluded that the band 7p21 (probably only the subband p21.1) is the critical segment for the full clinical expression of this aneusomy.

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Year:  1986        PMID: 3487273

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  3 in total

1.  The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart.

Authors:  P Bourgeois; C Stoetzel; A L Bolcato-Bellemin; M G Mattei; F Perrin-Schmitt
Journal:  Mamm Genome       Date:  1996-12       Impact factor: 2.957

2.  The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 locus.

Authors:  K Tsuji; K Narahara; Y Yokoyama; K H Grzeschik; J Kunz
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132

Review 3.  De novo terminal deletion 7p22.1--pter in a child without craniosynostosis.

Authors:  F Speleman; M Craen; J Leroy
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

  3 in total

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