Literature DB >> 2185634

Double chromosome anomaly: interstitial deletion 5q and reciprocal translocation (1;11)(p22;q21).

M I de Michelena1, J Villacorta, J Chávez.   

Abstract

We describe a girl with multiple congenital abnormalities and developmental delay; her karyotype showed an apparently balanced translocation between the short arm of chromosome 1 and the long arm of chromosome 11, and an interstitial deletion of the long arm of chromosome 5 (q15q31). The clinical findings are compared with those described in other cases of 5q deletion, and the origin of the chromosome rearrangements is briefly discussed.

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Year:  1990        PMID: 2185634     DOI: 10.1002/ajmg.1320360107

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


  4 in total

1.  Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.

Authors:  Lisa Ofner; Jochen Raedle; Christian Windpassinger; Thomas Schwarzbraun; Peter M Kroisel; Klaus Wagner; Erwin Petek
Journal:  J Hum Genet       Date:  2005-12-20       Impact factor: 3.172

2.  Remarks on constitutional 5q deletions.

Authors:  H Rivera
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

Review 3.  Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis.

Authors:  V Lindgren; C R Bryke; T Ozcelik; T L Yang-Feng; U Francke
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

Review 4.  Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.

Authors:  J C Barber; K H Ellis; L V Bowles; J D Delhanty; R F Ede; B M Male; D M Eccles
Journal:  J Med Genet       Date:  1994-04       Impact factor: 6.318

  4 in total

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