Literature DB >> 6196484

A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23).

D J Shawe, C Fear, W J Appleyard.   

Abstract

A male infant with multiple congenital abnormalities and global retardation was found to have a translocation resulting in partial trisomy for the distal end of the long arm of chromosome 3. The phenotypically normal father carried a balanced reciprocal translocation between chromosomes 3 and 17.

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Year:  1983        PMID： 6196484      PMCID： PMC1049156          DOI： 10.1136/jmg.20.5.383

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


  6 in total

1.  [Morphologic abnormality due to duplication of chromosome 17 (46,XY,17q+) in a newborn infant].

Authors:  B Fouquette; R Rosenfeld; M Cadotte
Journal:  Union Med Can       Date:  1974-08

2.  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

3.  Duplication (partial trisomy) of the distal long arm of chromosome 17: a new clinically recognizable chromosome disorder.

Authors:  M S Berberich; J C Carey; H J Lawce; B D Hall
Journal:  Birth Defects Orig Artic Ser       Date:  1978

4.  Partial trisomy 17q. Karyotype: 46,XY,der(21),t(17;21)(q22;p13).

Authors:  J P Fryns; C Parloir; H Van den Berghe
Journal:  Hum Genet       Date:  1979-07-18       Impact factor: 4.132

5.  Identification of isochromosome 17 in a girl with mental retardation and congenital malformations.

Authors:  F Salamanca-Gómez; S Armendares
Journal:  Ann Genet       Date:  1975-12

6.  Distal trisomy 17q.

Authors:  C Turleau; J de Grouchy; J P Bouveret
Journal:  Clin Genet       Date:  1979-07       Impact factor: 4.438
  6 in total
  4 in total

Review 1.  Sibs lacking characteristic features of duplication of distal 17q.

Authors:  S Ohdo; H Madokoro; T Sonoda; K Ohba
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318

2.  Mosaic partial trisomy 17q2.

Authors:  P A King; A Ghosh; M Tang
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

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.  Probable de novo 17q duplication (q11.2-->q21.1): a newly recognised chromosomal syndrome in a child with Klinefelter's syndrome.

Authors:  A M Butt; D Mehta; J A Goodeve; F A Flinter
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318
  4 in total

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