Literature DB >> 6885060

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

J P Fryns, G Heremans, J Marien, H Van den Berghe.   

Abstract

In the present paper an intercalary deletion of band 8q23 is reported in another patient with Langer-Giedion syndrome. These data confirm that the deletion in 8q responsible for this malformation syndrome is located at band 8q23.

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Year:  1983        PMID： 6885060     DOI： 10.1007/bf00327126

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


  8 in total

1.  Langer-Giedion syndrome: type II tricho-rhino-phalangeal dysplasia.

Authors:  E Stoltzfus; R L Ladda; J Lloyd-Still
Journal:  J Pediatr       Date:  1977-08       Impact factor: 4.406

2.  Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21).

Authors:  J P Fryns; N Logghe; M Van Eygen; H Van Der Berghe
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

3.  Langer-Giedion syndrome.

Authors:  B D Hall; L O Langer; A Giedion; D W Smith; M M Cohen; R K Beals; M Brandner
Journal:  Birth Defects Orig Artic Ser       Date:  1974

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

Authors:  R A Pfeiffer
Journal:  Clin Genet       Date:  1980-08       Impact factor: 4.438

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.  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 with interstitial 8q-deletion.

Authors:  B U Zabel; W A Baumann
Journal:  Am J Med Genet       Date:  1982-03

8.  Chromosome deletion and multiple cartilaginous exostoses.

Authors:  E M Bühler; U K Bühler; G R Stalder; L Jani; L P Jurik
Journal:  Eur J Pediatr       Date:  1980-03       Impact factor: 3.183
  8 in total
  8 in total

1.  Haematometra in the Langer-Giedion syndrome.

Authors:  M W Partington; J Rae; M J Payne
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

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

4.  Trichorhinophalangeal syndrome type I and systemic lupus erythematosus with complement C4A homozygous null alleles in the same family.

Authors:  S R Dahlqvist; B Lundström; G Holmgren
Journal:  Ann Rheum Dis       Date:  1989-09       Impact factor: 19.103

5.  Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics.

Authors:  S Noltorp; U L Kristoffersson; N Mandahl; L Stigsson; B Svensson; C O Werner
Journal:  Ann Rheum Dis       Date:  1986-01       Impact factor: 19.103

6.  Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion.

Authors:  A Hamers; P Jongbloet; G Peeters; J P Fryns; J Geraedts
Journal:  Eur J Pediatr       Date:  1990-06       Impact factor: 3.183

7.  Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II.

Authors:  H Brocas; E M Bühler; P Simon; N J Malik; G Vassart
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

Review 8.  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
  8 in total

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