Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23). Issue 6 (June 1996)

• Record Type: Journal Article
• Authors: Cockwell, A E; James, R S; Moore, I E; Hatchwell, E; Crolla, J A
• Is Part Of: Journal of medical genetics. Volume 33:Issue 6(1996)
• Page Start: 515
• Page End: 517
• Publication Date: 1996-06
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.33.6.515
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : We report a reciprocal translocation t(8;18)(p21.3;p11.23) in which both unbalanced products of adjacent 1 segregation were observed within a family. The proband was originally referred because of short stature and a webbed neck, but further investigations showed that she had mental retardation and a congenital heart defect, and had inherited an unbalanced form of the maternal translocation, 46, XX, der(8)t(8;18)mat. The proband's sister spontaneously aborted an 11 week fetus with multiple major system malformations, which was found to have a 46, XY, der(18)t(8;18)mat karyotype. The phenotypic findings of the affected subjects are discussed.