Interstitial deletion of 8q. Occurrence in a patient with multiple exostoses and unusual facies
W. G. Wilson, H. E. Wyandt and H. Shah
A patient with multiple exostoses, mental retardation, and unusual facies
has an interstitial deletion of the long arm of chromosome 8, or 46,XX, del
(8) (pter leads to q22::q24.1 leads to qter). She has some features of the
Langer-Giedion syndrome, but her facies are not characteristic and she does
not have cone-shaped phalangeal epiphyses. Of the eight previous reports of
partial deletion of the long arm of chromosome 8, four patients had
exostoses and unusual facies, three of whom had characteristics of the
Langer-Gieldion syndrome. The deleted segments in the patients with
exostoses are not identical, although there are areas of deletion that are
seen in more than one patient. Among the explanations of the relationship
of the 8q deletions to exostoses is the presence of several loci on 8q that
are involved in bone formation, the deletion of any of which may give rise
to a similar skeletal defect.