A homozygote for pericentric inversion of chromosome 4. Issue 6 (December 1982)

• Record Type: Journal Article
• Authors: Carpenter, N J; Say, B; Barber, N D
• Is Part Of: Journal of medical genetics. Volume 19:Issue 6(1982)
• Page Start: 469
• Page End: 471
• Publication Date: 1982-12
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.19.6.469
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A child with developmental and language delay was found to be homozygous for a pericentric inversion of chromosome 4 (inv(4) (p15 X 2q12)). Her normal mother and aunt are inversion heterozygotes. It is suggested that the phenotypic abnormalities may have resulted from damage at chromosomal breakpoints or from a position effect which is expressed only in homozygous form.