Literature DB >> 6254701

Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22).

R A Pfeiffer.   

Abstract

Deletion of the long arm of chromosome 8 was found in a mentally retarded boy with typical features of the Langer-Giedion syndrome (TRP syndrome type II). Additional malformations were colobomata of the iris and partial syndactyly of the 4th and 5th fingers.

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Mesh：

Year:  1980        PMID： 6254701     DOI： 10.1111/j.1399-0004.1980.tb01025.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  17 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

Review 2.  Human chromosome 8.

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

3.  8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I.

Authors:  J P Fryns; H Van den Berghe
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

Review 4.  Microcytogenetics 1984.

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

5.  Langer-Giedion syndrome and deletion of the long arm of chromosome 8.

Authors:  J P Fryns; N Logghe; M van Eygen; H Van den Berghe
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  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

7.  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

8.  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

9.  "Microcytogenetics" and Langer-Giedion syndrome.

Authors:  M Frontali; M Ramenghi; S Trabace; B Dallapiccola
Journal:  J Med Genet       Date:  1982-10       Impact factor: 6.318

10.  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
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