Literature DB >> 1867275

Duplication of the distal part of the long arm of chromosome 1.

V P Johnson1.   

Abstract

A case of dup(1)(q42----qter) is reported. A literature review of duplication of the distal third of chromosome 1 with breakpoints at various sites, 1q23, 1q25, 1q32, and 1q42, was undertaken. Clinical similarities and differences based on the size of the duplicated segment and other associated deficiencies are summarized.

Mesh：

Year:  1991        PMID： 1867275     DOI： 10.1002/ajmg.1320390305

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


  4 in total

1.  Partial 1q and 21p trisomies in a male child due to maternal t(1;21).

Authors:  S Rajangam; S Lincoln; S Hegde; I M Thomas
Journal:  Indian J Pediatr       Date:  1999 Mar-Apr       Impact factor: 1.967

2.  Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome.

Authors:  H C Duba; M Erdel; J Löffler; L Bereuther; H Fischer; B Utermann; G Utermann
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

Review 3.  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

4.  Structural chromosomal anomaly in mental retardation.

Authors:  K S Reddy; S Rajangam; I M Thomas
Journal:  Indian J Pediatr       Date:  1999 Nov-Dec       Impact factor: 1.967
  4 in total

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