Trisomy 18 phenotype in a patient with an isopseudodicentric 18 chromosome. Issue 2 (April 1984)

• Record Type: Journal Article
• Authors: Wulfsberg, E A; Sparkes, R S; Klisak, I J; Teng, A
• Is Part Of: Journal of medical genetics. Volume 21:Issue 2(1984)
• Page Start: 151
• Page End: 153
• Publication Date: 1984-04
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.21.2.151
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : We report a female patient with a typical trisomy 18 phenotype who has a 46, XX, -18, +isopseudodic(18)(p11) karotype. The lack of features of the 18p- syndrome suggests that a significant amount of short arm material is present and that the Turner-like features associated with 18p- may be determined by monosomy for 18p11. The phenotype-genotype correlations in abnormalities affecting chromosome 18 are reviewed.