Literature DB >> 3783625

Partial trisomy 7 (q32----qter) syndrome in two children.

D A Couzin, N Haites, J L Watt, A W Johnston.   

Abstract

Two unrelated children are described with a partial trisomy 7 (q32----qter). Their phenotypes are compared with other reported cases with both this trisomy and others of the 7q arm. Several apparently useful pathognomonic features are distinguished. The phenotypic variability between trisomic persons within and between families is discussed. It is suggested that the disparate monosomies always associated with these trisomies may not make a major contribution to this variability. The importance for genetic counselling of reporting in detail the clinical appearance and development of all children with this rate trisomy is emphasised.

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Year:  1986        PMID: 3783625      PMCID: PMC1049786          DOI: 10.1136/jmg.23.5.461

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


  5 in total

1.  [Partial 7 q trisomy. One or 2 syndromes? Apropos of a new case].

Authors:  C Turleau; A Rossier; G de Montis; M Roubin; F Chavin-Colin; J de Grouchy
Journal:  Ann Genet       Date:  1976-03

2.  Partial trisomy for the long arm of chromosome 7. Case report and review.

Authors:  M A Novales; C Fernandez-Novoa; A Hevia; V San Martin; H Galera
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

3.  Partial trisomy 7q in two siblings.

Authors:  M Klasen; M Schmid; I Hansmann; T Grimm
Journal:  Ann Genet       Date:  1983

4.  A family with three independent autosomal translocations associated with 7q32----7qter syndrome.

Authors:  H N Bass; R S Sparkes; M M Lessner; M Fox; B Phoenix; J Bernar
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

5.  Syndromes associated with deletion of the long arm of chromosome 18[del(18q)].

Authors:  M G Wilson; J W Towner; I Forsman; E Siris
Journal:  Am J Med Genet       Date:  1979
  5 in total
  3 in total

1.  Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7.

Authors:  D R Romain; H Cairney; D Stewart; L M Columbano-Green; M Garry; M I Parslow; R Parfitt; R H Smythe; C J Chapman
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

2.  Aortic root dilatation associated with partial trisomy 7(q31.2----qter).

Authors:  K B Roche; J W Moore; R B Surana; B E Wilson
Journal:  Pediatr Cardiol       Date:  1989       Impact factor: 1.655

3.  Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10.

Authors:  Jörg Weimer; Simone Heidemann; Constantin S von Kaisenberg; Werner Grote; Norbert Arnold; Susanne Bens; Almuth Caliebe
Journal:  Mol Cytogenet       Date:  2011-12-05       Impact factor: 2.009

  3 in total

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