Features of trisomy 18 and 18p- syndromes in an infant with 45,XY,i(18q).

Abstract

An isochromosome for the long arm of chromosome number 18 - 46,XY,i(18q) - was found in an infant who had features of both trisomy 18 and 18p- syndromes. Findings compatible with trisomy 18 included postmature delivery, prominent occiput, severe congenital heart disease, overlapping fingers, and rocker-bottom feet. Those of 18p- syndrome, which frequently resembles Turner syndrome, were downward obliquity to the palpebral fissures, short, webbed neck, low posterior hairline, and widely-spaced nipples. The infant died of heart failure at 3.5 months of age. Parental karyotypes were normal.

• Authors: H N Bass, R S Sparkes, A A Miller
• Journal: Clinical genetics (Clin Genet) Vol. 16 Issue 3 Pg. 163-8 (Sep 1979) ISSN: 0009-9163 [Print] Denmark
• PMID: 487637 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Topics

• Abnormalities, Multiple (genetics)
• Chromosome Banding
• Chromosomes, Human, 16-18
• Heart Defects, Congenital (genetics)
• Humans
• Infant
• Male
• Syndrome
• Trisomy