Literature DB >> 2301476

Ectro-amelia syndrome associated with an interstitial deletion of 7q.

M A Morey1, R R Higgins.   

Abstract

We describe a premature male infant with an interstitial deletion of 7q [46,XY,del(7) (pter----q21.3::q31.3----qter]. Manifestations include absence of lower limbs, unilateral ectrodactyly, facial anomalies, gingival hyperplasia, feeding problems, and atrial septal defect. Chromosome 7 deletions of the q21.3----q31.3 region are reviewed with emphasis on limb anomalies.

Entities:  

Mesh：

Year:  1990        PMID： 2301476     DOI： 10.1002/ajmg.1320350118

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  16 in total

1.  Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3.

Authors:  S H Roberts; H E Hughes; S J Davies; A L Meredith
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

2.  Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.

Authors:  V S Vervoort; D Viljoen; R Smart; G Suthers; B R DuPont; A Abbott; C E Schwartz
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

3.  Bilateral split hand/foot malformation and inv(7)(p22q21.3).

Authors:  J M Cobben; J B Verheij; W H Eisma; P H Robinson; R P Zwierstra; B Leegte; S Castedo
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

Review 4.  Cleft hand/foot: clinical and developmental aspects.

Authors:  P W Buss
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

5.  Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.

Authors:  S E Palmer; S W Scherer; M Kukolich; E M Wijsman; L C Tsui; K Stephens; J P Evans
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

6.  Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).

Authors:  E D'Alessandro; C Ligas; M L Lo Re; M P Marcanio; T Gentile; G Del Porto
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

7.  Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity.

Authors:  F Gurrieri; M Genuardi; P Chiurazzi; G Gillessen-Kaesbach; G Neri
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

8.  A novel locus for maternally inherited human gingival fibromatosis at chromosome 11p15.

Authors:  Yufei Zhu; Wenxia Zhang; Zhenghao Huo; Yi Zhang; Yu Xia; Bo Li; Xiangyin Kong; Landian Hu
Journal:  Hum Genet       Date:  2006-10-31       Impact factor: 4.132

9.  Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

Authors:  Evelyn N Kouwenhoven; Simon J van Heeringen; Juan J Tena; Martin Oti; Bas E Dutilh; M Eva Alonso; Elisa de la Calle-Mustienes; Leonie Smeenk; Tuula Rinne; Lilian Parsaulian; Emine Bolat; Rasa Jurgelenaite; Martijn A Huynen; Alexander Hoischen; Joris A Veltman; Han G Brunner; Tony Roscioli; Emily Oates; Meredith Wilson; Miguel Manzanares; José Luis Gómez-Skarmeta; Hendrik G Stunnenberg; Marion Lohrum; Hans van Bokhoven; Huiqing Zhou
Journal:  PLoS Genet       Date:  2010-08-19       Impact factor: 5.917

10.  Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.

Authors:  J Ignatius; S Knuutila; S W Scherer; B Trask; J Kere
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318
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