Literature DB >> 6502654

A malformed girl with duplication of chromosome 9q.

Y Nakahori, Y Nakagome.   

Abstract

A case of a 1 year old girl with a duplication of the long arm of chromosome 9 is described: 46,XX,dir dup(9)(q12----q32). The clinical features of the child are strikingly similar to those of the two cases reported by Turleau et al and Faed et al. The similarity of the abnormalities may help in recognising this syndrome by its characteristic dysmorphic features.

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Year:  1984        PMID： 6502654      PMCID： PMC1049326          DOI： 10.1136/jmg.21.5.387

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


  4 in total

1.  Partial trisomy 9q: a new syndrome.

Authors:  C Turleau; J de Grouchy; F Chavin-Colin; M Roubin; P E Brissaud; G Repessé; A Safar; P Borniche
Journal:  Humangenetik       Date:  1975-09-23

2.  Pure partial trisomy for long arm of chromosome 9.

Authors:  M Faed; J Robertson; S Brown; P J Smail; R D Muckhart
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

3.  High-resolution banding by treating cells with acridine orange before fixation.

Authors:  T Matsubara; Y Nakagome
Journal:  Cytogenet Cell Genet       Date:  1983

4.  Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A.

Authors:  D Schweizer; P Ambros; M Andrle
Journal:  Exp Cell Res       Date:  1978-02       Impact factor: 3.905
  4 in total
  2 in total

1.  Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings.

Authors:  Matthew Vanlandingham; Tuan V Nguyen; Omar A Abdul-Rahman; Andrew Parent; Jun Zhang
Journal:  Neurol Sci       Date:  2008-11-27       Impact factor: 3.307

Review 2.  Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family.

Authors:  D Wellesley; I D Young; P Cooke; D F Callen; A Hockey
Journal:  J Med Genet       Date:  1988-10       Impact factor: 6.318
  2 in total

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