Literature DB >> 6681937

Duplication (17p) in a child with an isodicentric (17p) chromosome.

J T Mascarello, M C Jones, H E Hoyme, M M Freebury.   

Abstract

We present a child with multiple structural defects due to duplication of the short arm and a small portion of the long arm of chromosome 17. Three children with similar cytogenetic abnormalities have been reported previously. The karyotype contained an isodicentric chromosome derived from chromosome 17. A clue to the mechanism that produced the isochromosome was retained in the genome in the form of a part of the chromosome 17 long arm which was attached to the short arm of a chromosome 10.

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Year:  1983        PMID： 6681937     DOI： 10.1002/ajmg.1320140111

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


  5 in total

1.  Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.

Authors:  Zhishuo Ou; Małgorzata Jarmuz; Steven P Sparagana; Jacques Michaud; Jean-Claude Décarie; Svetlana A Yatsenko; Beata Nowakowska; Patti Furman; Chad A Shaw; Lisa G Shaffer; James R Lupski; A Craig Chinault; Sau W Cheung; Paweł Stankiewicz
Journal:  Hum Genet       Date:  2006-06-22       Impact factor: 4.132

2.  Dicentric chromosomes and the inactivation of the centromere.

Authors:  E Therman; C Trunca; E M Kuhn; G E Sarto
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

3.  A dicentric recombinant 9 derived from a paracentric inversion: phenotype, cytogenetics, and molecular analysis of centromeres.

Authors:  M J Worsham; D A Miller; J M Devries; A R Mitchell; V R Babu; V Surli; L Weiss; D L Van Dyke
Journal:  Am J Hum Genet       Date:  1989-01       Impact factor: 11.025

4.  A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy.

Authors:  K S Reddy; M B Larsen
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

5.  DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

Authors:  L Potocki; K S Chen; T Koeuth; J Killian; S T Iannaccone; S K Shapira; C D Kashork; A S Spikes; L G Shaffer; J R Lupski
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025
  5 in total

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