Literature DB >> 2764033

Terminal deletion 4q in a severely retarded boy.

M I de Michelena1, P J Campos.   

Abstract

We report a boy with a de novo terminal deletion of chromosome 4q, (q31----qter) and compare him to 17 previously reported cases with the same anomaly. This case contributes further to the delineation of the del(4)(q31) phenotype, which seems to be clinically recognizable.

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Year:  1989        PMID： 2764033     DOI： 10.1002/ajmg.1320330217

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 in total

1.  Interstitial deletion of the distal long arm of chromosome 4.

Authors:  P Sarda; G Lefort; J P Fryns; C Humeau; D Rieu
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

Review 2.  Toward the complete genomic map and molecular pathology of human chromosome 4.

Authors:  O Riess; B Winkelmann; J T Epplen
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

3.  Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.

Authors:  Mohammed Al-Owain; Namik Kaya; Hamad Al-Zaidan; Ibrahim Bin Hussain; Hadeel Al-Manea; Hindi Al-Hindi; Shelley Kennedy; M Anwar Iqbal; Hamad Al-Mojalli; Albandary Al-Bakheet; Anne Puel; Jean-Laurent Casanova; Saleh Al-Muhsen
Journal:  Clin Dev Immunol       Date:  2010-12-14

4.  Terminal 4q deletion syndrome.

Authors:  C M Kuldeep; A K Khare; Anubhav Garg; Asit Mittal; Lalit Gupta
Journal:  Indian J Dermatol       Date:  2012-05       Impact factor: 1.494
  4 in total

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