Literature DB >> 3712390

Monosomy 8p: an easily overlooked syndrome.

A H Bröcker-Vriends, P D Mooij, F van Bel, G C Beverstock, J J van de Kamp.   

Abstract

Two patients with partial monosomy of the short arm of chromosome 8 are described. Their clinical features were very similar. Comparison with previously reported patients confirms the existence of an 8p- syndrome. The importance of cytogenetic investigations in all infants with major congenital heart defect and facial dysmorphism or microcephaly or both is stressed.

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Year:  1986        PMID： 3712390      PMCID： PMC1049570          DOI： 10.1136/jmg.23.2.153

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


  8 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.  New chromosomal malformation syndromes. I. Partial monosomy 8p. An attempt to establish a new chromosome deletion syndrome.

Authors:  A Rodewald; S Stengel-Rutkowski; P Schulz; H Cleve
Journal:  Eur J Pediatr       Date:  1977-04-26       Impact factor: 3.183

3.  A case of deletion of short arm of chromosome 8.

Authors:  J Leisti; P Aula
Journal:  Birth Defects Orig Artic Ser       Date:  1977

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.  rDNA and acrocentric chromosomes in man. I. rDNA levels in a subject carrier of a 8p/13p balanced translocation and in his unbalanced son.

Authors:  G Guanti; G Mollica; L Polimeno; F Maritato
Journal:  Hum Genet       Date:  1976-07-27       Impact factor: 4.132

7.  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

8.  The 8p- syndrome.

Authors:  J A Reiss; P M Brenes; J Chamberlin; R E Magenis; E W Lovrien
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132
  8 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.  Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Authors:  Margaret J Wat; Oleg A Shchelochkov; Ashley M Holder; Amy M Breman; Aditi Dagli; Carlos Bacino; Fernando Scaglia; Roberto T Zori; Sau Wai Cheung; Daryl A Scott; Sung-Hae Lee Kang
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802
  4 in total

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