Multiple exostoses in a patient with t(8;11)(q24.11;p15.5)

R F Ogle; P Dalzell; G Turner; D Wass; M Y Yip

doi:10.1136/jmg.28.12.881

Multiple exostoses in a patient with t(8;11)(q24.11;p15.5)

J Med Genet. 1991 Dec;28(12):881-3. doi: 10.1136/jmg.28.12.881.

Authors

R F Ogle¹, P Dalzell, G Turner, D Wass, M Y Yip

Affiliation

¹ Medical Genetics Department, Prince of Wales Children's Hospital, Sydney, Australia.

Abstract

The occurrence of multiple exostoses in a carrier of a balanced translocation t(8;11) (q24.11;p15.5) is described. The breakpoint on chromosome 8 is at proximal q24.1 within the critical region reported for Langer-Giedion syndrome.

Publication types

Case Reports

MeSH terms

Adult
Chromosome Deletion
Chromosomes, Human, Pair 11*
Chromosomes, Human, Pair 8*
Exostoses, Multiple Hereditary / genetics*
Exostoses, Multiple Hereditary / pathology
Female
Humans
Maternal Age
Pregnancy
Pregnancy Complications
Pregnancy, High-Risk
Translocation, Genetic / genetics*