Literature DB >> 7081298

Langer-Giedion syndrome with interstitial 8q-deletion.

B U Zabel, W A Baumann.   

Abstract

We describe a 12-year-old girl with Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) who also had vertebral malformations. Chromosome analysis identified an interstitial del(8q): 46,XX,del(8)(pter leads to q22::q234 leads to qter) as a cause of this syndrome.

Entities:  

Mesh：

Year:  1982        PMID： 7081298     DOI： 10.1002/ajmg.1320110312

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


  10 in total

Review 1.  Human chromosome 8.

Authors:  S Wood
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

Review 2.  Microcytogenetics 1984.

Authors:  J de Grouchy; C Turleau
Journal:  Experientia       Date:  1986-10-15

3.  Deletion of band 13q21 is compatible with normal phenotype.

Authors:  J Couturier; N Morichon-Delvallez; B Dutrillaux
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

4.  Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?

Authors:  E M Bühler; U K Bühler; R Christen
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

5.  Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23.

Authors:  J P Fryns; G Heremans; J Marien; H Van den Berghe
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

6.  Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23.

Authors:  C Turleau; F Chavin-Colin; J de Grouchy; P Maroteaux; H Rivera
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

7.  Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8.

Authors:  D V Zaletajev; G S Marincheva
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

8.  Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46, XY or XX, del (8) (q23.3q24.13).

Authors:  Y Fukushima; Y Kuroki; T Izawa
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

9.  Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor.

Authors:  K O Simola; S Knuutila; I Kaitila; A Pirkola; P Pohja
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

10.  Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.

Authors:  H J Lüdecke; C Johnson; M J Wagner; D E Wells; C Turleau; N Tommerup; A Latos-Bielenska; K R Sandig; P Meinecke; B Zabel
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025
  10 in total

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