RT Journal Article
SR Electronic
T1 Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 167
OP 171
DO 10.1136/jmg.26.3.167
VO 26
IS 3
A1 Fennell, S J
A1 Benson, J W
A1 Kindley, A D
A1 Schwarz, M J
A1 Czepulkowski, B
YR 1989
UL http://jmg.bmj.com/content/26/3/167.abstract
AB We report two de novo cases of del(8)(pter----q24.1:) with breakpoints involving the distal part of band 8q24.1. The clinical features were similar and there were no obvious stigmata of Langer-Giedion syndrome (LGS). There are three other cases reported with a deletion of chromosome 8 at approximately the same breakpoint, one without LGS and some similarities to our cases, the other two with LGS. Our findings would support the observation that the critical segment for the assignment of LGS is proximal to or involves the proximal part of 8q24.1, but a review of published reports suggests that the aetiology of LGS may be a more complex issue.