Literature DB >> 302678

[Partial monosomy 11q. A new case].

J L Bresson, A Noir.   

Abstract

Partial monosomy 11q due to a de novo 11q231 leads to 11qter deletion was detected in a patient who died at seven days of age with most malformations characteristic of monosomy 11q, including trigonocephaly, facial dysmorphia, and congenital heart disease. In this as in most previously reported cases, the break point was at 11q231.

Entities:  

Mesh：

Year:  1977        PMID： 302678

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


  5 in total

1.  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

Review 2.  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

3.  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

4.  Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome.

Authors:  G S Pai; G H Thomas; P J Benke
Journal:  J Med Genet       Date:  1981-10       Impact factor: 6.318

5.  Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings.

Authors:  A Schinzel; P Auf der Maur; H Moser
Journal:  J Med Genet       Date:  1977-12       Impact factor: 6.318
  5 in total

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