Literature DB >> 7069751

A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25).

M C Higginbottom, J T Mascarello, H Hassin, W K McCord.   

Abstract

A child with monosomy for the distal part of the short arm of chromosome 3 is presented. Altered features include prenatal onset growth deficiency, postaxial polydactyly, ptosis, ear anomalies, and a triangular facial appearance. In addition to generalised delay in psychomotor development, specific problems in visual attention were present. Comparison with the previously reported case suggests that the phenotype observed constitutes a clinically recognisable pattern of malformation.

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Mesh:

Year:  1982        PMID: 7069751      PMCID: PMC1048824          DOI: 10.1136/jmg.19.1.71

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  1 in total

1.  A patient with a partial deletion of the short arm of chromosome 3.

Authors:  M Verjaal; M B De Nef
Journal:  Am J Dis Child       Date:  1978-01
  1 in total
  5 in total

1.  Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome.

Authors:  T Drumheller; B C McGillivray; D Behrner; P MacLeod; D E McFadden; J Roberson; C Venditti; K Chorney; M Chorney; D I Smith
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

2.  3p-- syndrome defines a hearing loss locus in 3p25.3.

Authors:  Brendan J McCullough; Joe C Adams; Dustin J Shilling; M Patrick Feeney; Kathleen C Y Sie; Bruce L Tempel
Journal:  Hear Res       Date:  2007-01-08       Impact factor: 3.208

3.  Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11).

Authors:  M J Faed; J Robertson; J S Beck; J I Cater; B Bose; M M Madlom
Journal:  J Med Genet       Date:  1987-04       Impact factor: 6.318

4.  Deletion of the short arm of chromosome 3: a case report with necropsy findings.

Authors:  D Beneck; M J Suhrland; R Dicker; M A Greco; S R Wolman
Journal:  J Med Genet       Date:  1984-08       Impact factor: 6.318

Review 5.  Review of literature: genes related to postaxial polydactyly.

Authors:  Prashant Kumar Verma; Ashraf A El-Harouni
Journal:  Front Pediatr       Date:  2015-02-11       Impact factor: 3.418

  5 in total

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