Literature DB >> 1180635

[Reverse type of cri du chat disease: 5 p trisomy].

C Stoll, M O Rethore, C Laurent, J Lejeune.   

Abstract

Five patients with a trisomy of the main part of the short arm of a chromosome 5 represented with the clinical picture of the reversetype of the Cri-du-chat syndrome. Its main features are the spurt of gonions, prominent chin, prominent nose root, subnormal skull perimeter, low I.Q. and muscular hypotonia.

Entities:  

Mesh：

Year:  1975        PMID： 1180635

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN： 0003-9764


  5 in total

1.  Sister chromatid exchanges in balanced translocation carriers and in patients with unbalanced karyotypes.

Authors:  C Stoll; D S Borgaonkar; P Bigel
Journal:  Hum Genet       Date:  1977-06-10       Impact factor: 4.132

2.  "Complete" trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Case report and review of the literature.

Authors:  N J Leschot; K S Lim
Journal:  Hum Genet       Date:  1979-02-15       Impact factor: 4.132

3.  Cytogenetic recombinants from a female carrying a paracentric inversion of the short arm of chromosome number 5.

Authors:  E Valcárcel; J Benítez; P Martínez; J A Rey; A Sánchez Cascos
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

4.  Partial trisomy-5p.

Authors:  E Yunis; R Silva; H Egel; R Zúñiga; O M Torres de Caballero; E Ramirez; H Poveda de Ruiz
Journal:  Hum Genet       Date:  1978-08-31       Impact factor: 4.132

Review 5.  The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

Authors:  E Niebuhr
Journal:  Hum Genet       Date:  1978-11-16       Impact factor: 4.132
  5 in total

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