Literature DB >> 7702091

Deletion of chromosome 3 and a 3;20 reciprocal translocation demonstrated by chromosome painting.

B Crispino1, H Cardoso, A Mimbacas, V Méndez.   

Abstract

The combined use of high resolution banding and chromosome painting techniques allowed us to identify a reciprocal translocation involving chromosomes 3 and 20 and simultaneous interstitial deletion of chromosome 3 in a patient with several minor anomalies of the face and hands. His karyotype is described as 46,XY,t(3;20) (p14.2;p12.2),del(3)(p11-p14.1).

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Year:  1995        PMID： 7702091     DOI： 10.1002/ajmg.1320550109

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


  3 in total

Review 1.  Interstitial Chromosome 3p13p14 Deletions: An Update and Review.

Authors:  Catherine A Hajek; Jianling Ji; Sulagna C Saitta
Journal:  Mol Syndromol       Date:  2018-04-07

2.  Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.

Authors:  Erwin Petek; Christian Windpassinger; Burkhard Simma; Thomas Mueller; Klaus Wagner; Peter M Kroisel
Journal:  J Hum Genet       Date:  2003-04-24       Impact factor: 3.172

3.  A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis.

Authors:  Mitchel J Pariani; Andrew Spencer; John M Graham; David L Rimoin
Journal:  Eur J Med Genet       Date:  2009-03-28       Impact factor: 2.708
  3 in total

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