Literature DB >> 3067576

A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4.

M H Beall1, R E Falk, K L Ying.   

Abstract

A patient with a proximal deletion of the long arm of chromosome 4 is presented. This patient and 6 others previously described appear to have similar findings of moderate to severe developmental delay, small size, small hands and feet, and similar facial appearance. These patients appear to be quite different from those with more distal 4q deletions.

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Year:  1988        PMID: 3067576     DOI: 10.1002/ajmg.1320310310

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


  6 in total

1.  Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.

Authors:  Lynn Dukes-Rimsky; Gregory F Guzauskas; Kenton R Holden; Rachel Griggs; Sydney Ladd; Maria del Carmen Montoya; Barbara R DuPont; Anand K Srivastava
Journal:  Am J Med Genet A       Date:  2011-08-10       Impact factor: 2.802

2.  Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a child with multiple congenital abnormalities.

Authors:  M A Curtis; O W Quarrell; A M Cobon; M Cummins
Journal:  J Med Genet       Date:  1990-01       Impact factor: 6.318

3.  Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12.

Authors:  A Schinzel; C P Braegger; L Brecevic; F Dutly; F Binkert
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

4.  Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry.

Authors:  A Cooke; J L Tolmie; J M Colgan; C M Greig; J M Connor
Journal:  Hum Genet       Date:  1989-08       Impact factor: 4.132

Review 5.  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

Review 6.  Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions.

Authors:  A Slavotinek; H Kingston
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

  6 in total

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