Literature DB >> 2325108

A constitutional 5q23 deletion.

H Rivera1, P Simi, S Rossi, L Pardelli, M C Di Paolo.   

Abstract

A 14 month old girl was found to have a deletion of the whole of band 5q23. By comparing 19 other cases monosomic for a part of the 5q13-q31 segment, the constitutional 5q interstitial deletions fall into two groups: adult patients with Gardner-like symptoms and mental retardation associated with deletion 5q21-q22, and patients (mostly children) with unspecific signs and symptoms and different deletions.

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Mesh：

Year:  1990        PMID： 2325108      PMCID： PMC1017033          DOI： 10.1136/jmg.27.4.267

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


  8 in total

1.  Deletion of band 5q21 in association with a de novo translocation involving 2p and 5q.

Authors:  J F Yung; N Williamson; I Salafsky; J J Hoo
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

2.  De novo t(4;5)(q3100;q2200) with del(5)(q1500q2200). Tentative delineation of a 5q monosomy syndrome and assignment of the critical segment.

Authors:  H Rivera; A Rolón; J Sánchez-Corona; J M Cantú
Journal:  Clin Genet       Date:  1985-01       Impact factor: 4.438

3.  Interstitial deletion of band q12 of chromosome 5.

Authors:  G Dudin; D Alexander; F Talj; M Deeb; S Musallam; V M Der Kaloustian
Journal:  Clin Genet       Date:  1984-05       Impact factor: 4.438

4.  Localization of the gene for familial adenomatous polyposis on chromosome 5.

Authors:  W F Bodmer; C J Bailey; J Bodmer; H J Bussey; A Ellis; P Gorman; F C Lucibello; V A Murday; S H Rider; P Scambler
Journal:  Nature       Date:  1987 Aug 13-19       Impact factor: 49.962

Review 5.  The 5q-anomaly.

Authors:  H Van den Berghe; K Vermaelen; C Mecucci; D Barbieri; G Tricot
Journal:  Cancer Genet Cytogenet       Date:  1985-07

6.  Gardner syndrome in a man with an interstitial deletion of 5q.

Authors:  L Herrera; S Kakati; L Gibas; E Pietrzak; A A Sandberg
Journal:  Am J Med Genet       Date:  1986-11

7.  The gene for familial polyposis coli maps to the long arm of chromosome 5.

Authors:  M Leppert; M Dobbs; P Scambler; P O'Connell; Y Nakamura; D Stauffer; S Woodward; R Burt; J Hughes; E Gardner
Journal:  Science       Date:  1987-12-04       Impact factor: 47.728

8.  High resolution R- and G-banding on the same preparation.

Authors:  B Dutrillaux; E Viegas-Pequignot
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
  8 in total
  3 in total

1.  Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia.

Authors:  Tanya Kadiyska; Ivan Tourtourikov; Asen Petrov; Ani Chavoushian; Miglena Antalavicheva; Eva-Maria König; Eva Klopocki; Nikolova Vessela; Romil Stanislavov
Journal:  Mol Syndromol       Date:  2018-08-22

2.  Remarks on constitutional 5q deletions.

Authors:  H Rivera
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

3.  Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals.

Authors:  J Groden; L Gelbert; A Thliveris; L Nelson; M Robertson; G Joslyn; W Samowitz; L Spirio; M Carlson; R Burt
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025
  3 in total

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