Literature DB >> 6316787

A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome.

N Tommerup, F Nielsen.   

Abstract

A translocation t(3;7) (p21.l;p13) segregating through four generations was found to be invariably associated with the Greig cephalopolysyndactyly syndrome (GS). High resolution chromosome analyses using G and R banding did not uncover any imbalance of the affected chromosomes, nor were the late replicating patterns changed. One girl with the GS died of medulloblastoma.

Entities:  

Mesh：

Year:  1983        PMID： 6316787     DOI： 10.1002/ajmg.1320160304

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


  18 in total

Review 1.  Balanced translocations in mental retardation.

Authors:  Geert Vandeweyer; R Frank Kooy
Journal:  Hum Genet       Date:  2009-04-05       Impact factor: 4.132

2.  Regional assignment of 41 human DNA fragments on chromosome 7 by means of a somatic cell hybrid panel.

Authors:  A Jobs; D Klein-Bölting; A S Jandel; A Driesel; K Olek; K H Grzeschik
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3.  Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions.

Authors:  M J Dixon; E Haan; E Baker; D David; N McKenzie; R Williamson; J Mulley; M Farrall; D Callen
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

Review 4.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

5.  Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

Authors:  Jennifer J Johnston; Isabelle Olivos-Glander; Christina Killoran; Emma Elson; Joyce T Turner; Kathryn F Peters; Margaret H Abbott; David J Aughton; Arthur S Aylsworth; Michael J Bamshad; Carol Booth; Cynthia J Curry; Albert David; Mary Beth Dinulos; David B Flannery; Michelle A Fox; John M Graham; Dorothy K Grange; Alan E Guttmacher; Mark C Hannibal; Wolfram Henn; Raoul C M Hennekam; Lewis B Holmes; H Eugene Hoyme; Kathleen A Leppig; Angela E Lin; Patrick Macleod; David K Manchester; Carlo Marcelis; Laura Mazzanti; Emma McCann; Marie T McDonald; Nancy J Mendelsohn; John B Moeschler; Billur Moghaddam; Giovanni Neri; Ruth Newbury-Ecob; Roberta A Pagon; John A Phillips; Laurie S Sadler; Joan M Stoler; David Tilstra; Catherine M Walsh Vockley; Elaine H Zackai; Touran M Zadeh; Louise Brueton; Graeme Charles M Black; Leslie G Biesecker
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Review 6.  Microdeletion syndromes, balanced translocations, and gene mapping.

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

7.  The acrocallosal syndrome and Greig syndrome are not allelic disorders.

Authors:  L A Brueton; K A Chotai; L van Herwerden; A Schinzel; R M Winter
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

8.  Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt).

Authors:  A Vortkamp; T Franz; M Gessler; K H Grzeschik
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

9.  Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13.

Authors:  A L Pettigrew; F Greenberg; C T Caskey; D H Ledbetter
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

10.  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
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