Literature DB >> 437781

The 8p- syndrome.

J A Reiss, P M Brenes, J Chamberlin, R E Magenis, E W Lovrien.   

Abstract

A boy with severe retardation of growth and development, minor dysmorphic features, severe congenital heart disease, and a 46,XY,8p-karyotype is described. The clinical findings of this boy are compared with those of others reported monosomic for a portion of the short arm of chromosome 8. The red cell glutathione reductase (GSR) level is normal in our patient.

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Year:  1979        PMID： 437781     DOI： 10.1007/bf00273195

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


  10 in total

1.  [Partial deletion of the short arm of chromosome 8].

Authors:  L Taillemite; J Channarond; H Tinel; N Muliez; C H Roux
Journal:  Ann Genet       Date:  1975-12

2.  Gene dose effect: regional mapping of human glutathione reductase on chromosome 8.

Authors:  D L George; U Francke
Journal:  Cytogenet Cell Genet       Date:  1976

3.  Trisomy 8 syndrome.

Authors:  S B Cassidy; B J McGee; J van Eys; W E Nance; E Engel
Journal:  Pediatrics       Date:  1975-11       Impact factor: 7.124

4.  Small structural changes of chromosome 8. Two cases with evidence for deletion.

Authors:  C Beighle; L E Karp; J W Hanson; J G Hall; H Hoehn
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132

5.  [Partial deletion of the short arm of chromosome 8].

Authors:  J L Bresson; A Noir; M Scherrer
Journal:  Ann Genet       Date:  1977-03

6.  Clinical and chromosomal studies of the 18q- syndrome.

Authors:  W Wertelecki; P S Gerald
Journal:  J Pediatr       Date:  1971-01       Impact factor: 4.406

7.  Partial deletion of the short arm of chromosome no. 4(4p-): clinical studies in five unrelated patients.

Authors:  O J Miller; W R Breg; D Warburton; D A Miller; A DeCapoa; P W Allderdice; J Davis; H P Klinger; E McGilvray; F H Allen
Journal:  J Pediatr       Date:  1970-11       Impact factor: 4.406

8.  The cri du chat syndrome in adolescents and adults: clinical finding in 13 older patients with partial deletion of the short arm of chromosome No. 5(5p-).

Authors:  W R Breg; M W Steele; O J Miller; D Warburton; A DeCapoa; P W Allderdice
Journal:  J Pediatr       Date:  1970-11       Impact factor: 4.406

9.  Mapping of the gene for glutathione reductase on chromosome 8.

Authors:  A de la Chapelle; A Icen; P Aula; J Leisti; C Turleau; J de Grouchy
Journal:  Ann Genet       Date:  1976-12

10.  A new chromosome deletion syndrome. Report of a patient with a 46,XY,8p- chromosome constitution.

Authors:  E Orye; M Craen
Journal:  Clin Genet       Date:  1976-03       Impact factor: 4.438
  10 in total
  4 in total

Review 1.  Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation.

Authors:  M J Pettenati; N Rao; C Johnson; R Hayworth; K Crandall; O Huff; I T Thomas
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

2.  Partial monosomy 8p with minimal dysmorphic signs.

Authors:  E Blennow; K Bröndum-Nielsen
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

3.  The coagulation factor VII regulator is located on 8p23.1.

Authors:  K Fagan; I Wilkinson; M Allen; S Brownlea
Journal:  Hum Genet       Date:  1988-08       Impact factor: 4.132

4.  Monosomy 8p: an easily overlooked syndrome.

Authors:  A H Bröcker-Vriends; P D Mooij; F van Bel; G C Beverstock; J J van de Kamp
Journal:  J Med Genet       Date:  1986-04       Impact factor: 6.318
  4 in total

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