Literature DB >> 1757967

Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).

R F Ogle1, P Dalzell, G Turner, D Wass, M Y Yip.   

Abstract

The occurrence of multiple exostoses in a carrier of a balanced translocation t(8;11) (q24.11;p15.5) is described. The breakpoint on chromosome 8 is at proximal q24.1 within the critical region reported for Langer-Giedion syndrome.

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Year:  1991        PMID： 1757967      PMCID： PMC1017169          DOI： 10.1136/jmg.28.12.881

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome.

Authors:  H J Lüdecke; R Burdiek; G Senger; U Claussen; E Passarge; B Horsthemke
Journal:  Hum Genet       Date:  1989-07       Impact factor: 4.132

2.  The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12.

Authors:  P Bowen; B Biederman; J J Hoo
Journal:  Ann Genet       Date:  1985

3.  Familial multiple exostoses--no chromosome 8 deletion observed.

Authors:  J G Hall; R D Wilson; D Kalousek; R Beauchamp
Journal:  Am J Med Genet       Date:  1985-11

4.  A final word on the tricho-rhino-phalangeal syndromes.

Authors:  E M Bühler; U K Bühler; C Beutler; R Fessler
Journal:  Clin Genet       Date:  1987-04       Impact factor: 4.438

5.  Mental retardation associated with "balanced" chromosome rearrangements.

Authors:  S J Funderburk; M A Spence; R S Sparkes
Journal:  Am J Hum Genet       Date:  1977-03       Impact factor: 11.025

6.  The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature.

Authors:  L O Langer; N Krassikoff; R Laxova; M Scheer-Williams; L D Lutter; R J Gorlin; C G Jennings; D W Day
Journal:  Am J Med Genet       Date:  1984-09

Review 7.  Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome.

Authors:  S J Fennell; J W Benson; A D Kindley; M J Schwarz; B Czepulkowski
Journal:  J Med Genet       Date:  1989-03       Impact factor: 6.318
  7 in total
  7 in total

Review 1.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

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

2.  WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2).

Authors:  J M McGaughran; H B Ward; D G Evans
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

3.  Genetic heterogeneity in families with hereditary multiple exostoses.

Authors:  A Cook; W Raskind; S H Blanton; R M Pauli; R G Gregg; C A Francomano; E Puffenberger; E U Conrad; G Schmale; G Schellenberg
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

4.  Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.

Authors:  J T Hecht; D Hogue; Y Wang; S H Blanton; M Wagner; L C Strong; W Raskind; M F Hansen; D Wells
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

5.  Hypercalcaemia from genitourinary tuberculosis in a female with multiple exostoses.

Authors:  Joselynna Anel-Quimpo; Mark Anthony Santiago Sandoval; Frances Lina Lantion-Ang
Journal:  BMJ Case Rep       Date:  2011-05-16

6.  Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8.

Authors:  J T Hecht; D Hogue; L C Strong; M F Hansen; S H Blanton; M Wagner
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

7.  The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).

Authors:  M Le Merrer; K Ben Othmane; V Stanescu; S Lyonnet; L Van Maldergem; G Royer; A Munnich; P Maroteaux
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318
  7 in total

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