Literature DB >> 3109789

Contribution to the 18q- syndrome. A patient with del(18) (q22.3qter).

I Felding, U Kristoffersson, H Sjöström, O Norén.   

Abstract

A patient with the typical features of the 18q- syndrome, but with the deletion restricted to the most distal part, bands q22.3----qter is reported. The cytogenetic finding is supported by a decrease in activity of the enzyme peptidase A.

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Year:  1987        PMID： 3109789     DOI： 10.1111/j.1399-0004.1987.tb02797.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  8 in total

1.  Mapping structural differences of the corpus callosum in individuals with 18q deletions using targetless regional spatial normalization.

Authors:  Peter Kochunov; Jack Lancaster; Jean Hardies; Paul M Thompson; Roger P Woods; Jannine D Cody; Daniel E Hale; Angela Laird; Peter T Fox
Journal:  Hum Brain Mapp       Date:  2005-04       Impact factor: 5.038

2.  Molecular characterization of patients with 18q23 deletions.

Authors:  G Strathdee; R Sutherland; J J Jonsson; R Sataloff; M Kohonen-Corish; D Grady; J Overhauser
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

3.  Adults with Chromosome 18 Abnormalities.

Authors:  Bridgette Soileau; Minire Hasi; Courtney Sebold; Annice Hill; Louise O'Donnell; Daniel E Hale; Jannine D Cody
Journal:  J Genet Couns       Date:  2014-11-19       Impact factor: 2.537

Review 4.  Molecular analysis of the 18q- syndrome--and correlation with phenotype.

Authors:  A D Kline; M E White; R Wapner; K Rojas; L G Biesecker; J Kamholz; E H Zackai; M Muenke; C I Scott; J Overhauser
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

5.  Myelination in children with partial deletions of chromosome 18q.

Authors:  Jack L Lancaster; Jannine D Cody; Trevor Andrews; L Jean Hardies; Daniel E Hale; Peter T Fox
Journal:  AJNR Am J Neuroradiol       Date:  2005-03       Impact factor: 3.825

6.  Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.

Authors:  C M Brewer; W W Lam; C Hayward; E Grace; E R Maher; D R FitzPatrick
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

7.  Interstitial deletions are not the main mechanism leading to 18q deletions.

Authors:  G Strathdee; W Harrison; H C Riethman; S A Goodart; J Overhauser
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

8.  The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2.

Authors:  G A Silverman; S S Schneider; H F Massa; A Flint; M Lalande; J C Leonard; J Overhauser; G van den Engh; B J Trask
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025
  8 in total

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