Literature DB >> 315201

[Partial monosomy due to long-arm deletion of chromosome 11 : del (11) (q23) (author's transl)].

C Léonard, C Courpotin, B Labrune, G Lepercq, J Kachaner, P Caut.   

Abstract

A girl, who died at 25 days of age, was found to have a partial monosomy due to a 11q23 leads to 11qter deletion. The main clinical findings were trigonocephay, facial dysmorphia, and congenital heart disease. A review of developmental and dysmorphic features of the seventeen recognized cases is presented.

Entities:  

Mesh：

Year:  1979        PMID： 315201

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  6 in total

1.  Interstitial deletion of 11q.

Authors:  M Guć-Sćekić; G Pilić-Radivojević; G Mrdjenović; M Djurić
Journal:  J Med Genet       Date:  1989-03       Impact factor: 6.318

2.  Partial deletion of the long arm chromosome 11 in Jacobsen syndrome.

Authors:  K S Reddy; I M Thomas; H S Narayanan
Journal:  Indian J Pediatr       Date:  1986 Jan-Feb       Impact factor: 1.967

3.  Chromosome deletion at 11q23 in an abnormal child from a family with inherited fragility at 11q23.

Authors:  L E Voullaire; G C Webb; M A Leversha
Journal:  Hum Genet       Date:  1987-06       Impact factor: 4.132

Review 4.  Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.

Authors:  E K Pivnick; G V Velagaleti; R S Wilroy; M E Smith; S R Rose; R E Tipton; A T Tharapel
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

5.  Partial deletion of the long arm of chromosome 11 the Jacobsen syndrome.

Authors:  K S Reddy; I M Thomas; H S Narayanan
Journal:  Indian J Pediatr       Date:  1984 May-Jun       Impact factor: 1.967

6.  The 11q;22q translocation: a European collaborative analysis of 43 cases.

Authors:  M Fraccaro; J Lindsten; C E Ford; L Iselius
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132
  6 in total

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