Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).
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.
Ogle
R F
RF
Medical Genetics Department, Prince of Wales Children's Hospital, Sydney, Australia.
Dalzell
P
P
Turner
G
G
Wass
D
D
Yip
M Y
MY
D000328:Adult; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D002898:Chromosomes, Human, Pair 8; D005097:Exostoses, Multiple Hereditary / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008423:Maternal Age; D011247:Pregnancy; D011248:Pregnancy Complications; D018566:Pregnancy, High-Risk; D014178:Translocation, Genetic / Q000235:genetics*