Literature DB >> 2352261

Partial monosomy 8p with minimal dysmorphic signs.

E Blennow1, K Bröndum-Nielsen.   

Abstract

A female patient with a 46,XX,del(8)(p23----pter) karyotype is presented. She was mentally retarded and showed a few dysmorphic features. Her red cell glutathione reductase level was within normal limits. This terminal deletion, on the short arm of chromosome 8, appears to be the smallest segment hitherto reported.

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Year:  1990        PMID： 2352261      PMCID： PMC1017085          DOI： 10.1136/jmg.27.5.327

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


  11 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.  4th International Workshop on Human Gene Mapping. Report of the committee on the genetic constitution of chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12.

Authors: 
Journal:  Cytogenet Cell Genet       Date:  1978

7.  Partial 8p- syndrome.

Authors:  S R Patil; J W Hanson
Journal:  J Genet Hum       Date:  1980-12

8.  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

9.  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

10.  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
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  8 in total

1.  Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome.

Authors:  S L Graw; T Sample; J Bleskan; E Sujansky; D Patterson
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

Review 2.  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

3.  A case of partial trisomy of chromosome 8p associated with autism.

Authors:  Katerina Papanikolaou; Elena Paliokosta; Jolanda Gyftodimou; Gerassimos Kolaitis; Sofia Vgenopoulou; Catherine Sarri; John Tsiantis
Journal:  J Autism Dev Disord       Date:  2006-07

Review 4.  Partial trisomy 1(q42-->qter): a new case with a mild phenotype.

Authors:  D Concolino; R Cinti; L Ferraro; M T Moricca; P Strisciuglio
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

5.  Familial partial trisomy 8p without dysmorphic features and only mild mental retardation.

Authors:  J J Engelen; C E de Die-Smulders; J M Sijstermans; L E Meers; J C Albrechts; A J Hamers
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

6.  Distal 8p deletion (8p23.1----8pter): a common deletion?

Authors:  R Hutchinson; M Wilson; L Voullaire
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

7.  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

8.  Is interstitial 8p23 microdeletion responsible of 46,XY gonadal dysgenesis? One case report from birth to puberty.

Authors:  Kathy Wagner-Mahler; Jean-Yves Kurzenne; Frederique Gastaud; Marie Hoflack; Patricia Panaia Ferrari; Etienne Berard; Fabienne Giuliano; Houda Karmous-Benailly; Pamela Moceri; Celine Jouannelle; Marine Bourcier; Elise Robart; Yves Morel
Journal:  Mol Genet Genomic Med       Date:  2019-01-28       Impact factor: 2.183
  8 in total

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