Literature DB >> 7868123

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

K Tsuji1, K Narahara, Y Yokoyama, K H Grzeschik, J Kunz.   

Abstract

We previously reported a patient with an apparently balanced t(6;7) translocation and craniosynostosis. We now demonstrate, by fluorescence in situ hybridization, that the yeast artificial chromosome clone 933-e-1 from the Centre d'Etude du Polymorphisme Humain library harbouring the D7S503 locus spans the breakpoint on distal 7p. Recent reports have defined a candidate region for a Saethre-Chotzen craniosynostosis locus between the loci D7S513 and D7S516, a region that includes the D7S503 locus. Since the translocation carrier shows only some of the symptoms characteristic for the Saethre-Chotzen syndrome, it remains unresolved whether the gene disrupted by the translocation event is the only one causing craniosynostosis in this chromosomal region.

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Year:  1995        PMID： 7868123     DOI： 10.1007/bf00225198

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  26 in total

1.  Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification.

Authors:  C Lengauer; E D Green; T Cremer
Journal:  Genomics       Date:  1992-07       Impact factor: 5.736

2.  A human chromosome 7-specific genomic DNA library in yeast artificial chromosomes.

Authors:  S W Scherer; B J Tompkins; L C Tsui
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

3.  High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones.

Authors:  P Lichter; C J Tang; K Call; G Hermanson; G A Evans; D Housman; D C Ward
Journal:  Science       Date:  1990-01-05       Impact factor: 47.728

4.  Is loss of band 7p21 really critical for manifestation of craniosynostosis in 7p-?

Authors:  K Kikkawa; K Narahara; K Tsuji; T Kubo; Y Yokoyama; Y Seino
Journal:  Am J Med Genet       Date:  1993-01-01

Review 5.  Saethre-Chotzen syndrome.

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

6.  Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26.

Authors:  X Li; A F Lewanda; F Eluma; H Jerald; H Choi; I Alozie; C Proukakis; C C Talbot; C Vander Kolk; L M Bird
Journal:  Genomics       Date:  1994-07-15       Impact factor: 5.736

7.  The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.

Authors:  L A Brueton; L van Herwerden; K A Chotai; R M Winter
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

8.  Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

Authors:  W Reardon; R M Winter; P Rutland; L J Pulleyn; B M Jones; S Malcolm
Journal:  Nat Genet       Date:  1994-09       Impact factor: 38.330

9.  Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation.

Authors:  K Tsuji; K Narahara; K Kikkawa; M Murakami; Y Yokoyama; S Ninomiya; Y Seino
Journal:  Am J Med Genet       Date:  1994-01-01

Review 10.  Six cases of 7p deletion: clinical, cytogenetic, and molecular studies.

Authors:  K A Chotai; L A Brueton; L van Herwerden; C Garrett; G K Hinkel; A Schinzel; R F Mueller; F Speleman; R M Winter
Journal:  Am J Med Genet       Date:  1994-07-01
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  2 in total

Review 1.  Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes.

Authors:  A O Wilkie
Journal:  Indian J Pediatr       Date:  1996 May-Jun       Impact factor: 1.967

Review 2.  Genetic advances in craniosynostosis.

Authors:  Wanda Lattanzi; Marta Barba; Lorena Di Pietro; Simeon A Boyadjiev
Journal:  Am J Med Genet A       Date:  2017-02-04       Impact factor: 2.802
  2 in total

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