Literature DB >> 6499259

Familial 5p- syndrome.

T Kushnick, K W Rao, A N Lamb.   

Abstract

This report concerns a mother and son with a small terminal deletion of the short arm of chromosome 5 (del(5)(qter----p15.1:). Both mother and son had superficial resemblance to patients with classical Cri-du-Chat Syndrome, but lacked the severe mental and growth retardation generally associated with such cases.

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Year:  1984        PMID： 6499259     DOI： 10.1111/j.1399-0004.1984.tb01091.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  8 in total

1.  Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation.

Authors:  Acácia Fernandes Lacerda de Carvalho; Fernanda Teixeira da Silva Bellucco; Leslie Domenici Kulikowski; Maria Betânia Pereira Toralles; Maria Isabel Melaragno
Journal:  Hum Genet       Date:  2008-09-07       Impact factor: 4.132

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

3.  Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features.

Authors:  D M Church; U Bengtsson; K V Nielsen; J J Wasmuth; E Niebuhr
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

4.  Interstitial deletion, del(4)(q33q35.1), in a mother and two children.

Authors:  M A Curtis; R A Smith; J Sibert; H E Hughes
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

Review 5.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

6.  Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.

Authors:  Dilek U Alkaya; Birsen Karaman; Beyhan Tüysüz
Journal:  Mol Syndromol       Date:  2020-04-02

7.  Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.

Authors:  P C Mainardi; C Perfumo; A Calì; G Coucourde; G Pastore; S Cavani; F Zara; J Overhauser; M Pierluigi; F D Bricarelli
Journal:  J Med Genet       Date:  2001-03       Impact factor: 6.318

Review 8.  Cri du Chat syndrome.

Authors:  Paola Cerruti Mainardi
Journal:  Orphanet J Rare Dis       Date:  2006-09-05       Impact factor: 4.123
  8 in total

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