Agenesis of the lung associated with a chromosome abnormality (46,XX,2p+).

Abstract

We describe a patient with agenesis of the left lung who also had a chromosome abnormality, probably representing a duplication of the distal part of the upper arm of chromosome 2. In addition to this finding, the existence of familial cases of lung agenesis indicate that further studies are required for better understanding of the genetic aspects of this condition.

• Authors: B Say, N J Carpenter, G Giacoia, S Jegathesan
• Journal: Journal of medical genetics (J Med Genet) Vol. 17 Issue 6 Pg. 477-8 (Dec 1980) ISSN: 0022-2593 [Print] England
• PMID: 7205432 (Publication Type: Case Reports, Journal Article)

Topics

• Chromosome Aberrations (genetics)
• Chromosome Banding
• Chromosome Disorders
• Chromosomes, Human, 1-3 (ultrastructure)
• Female
• Humans
• Infant, Newborn
• Lung (abnormalities)
• Trisomy