Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome.
Open Access
- 1 March 1989
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 26 (3) , 167-171
- https://doi.org/10.1136/jmg.26.3.167
Abstract
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.This publication has 10 references indexed in Scilit:
- A final word on the tricho‐rhino‐phalangeal syndromesClinical Genetics, 1987
- 8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type IHuman Genetics, 1986
- A complex rearrangement, including a deleted 8q, in a case of Langer‐Giedion syndromeClinical Genetics, 1985
- THE CRITICAL SEGMENT FOR THE LANGER-GIEDION SYNDROME - 8Q24.11-]Q24.121985
- The tricho‐rhino‐phalangeal syndrome(s): Chromosome 8 long arm deletion: Is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: Are they separate entities?American Journal of Medical Genetics, 1984
- Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23Human Genetics, 1983
- Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?Human Genetics, 1983
- Langer-Giedion syndrome with and without del 8q. Assignment of critical segment to 8q23Human Genetics, 1982
- Chromosome deletion and multiple cartilaginous exostosesEuropean Journal of Pediatrics, 1980
- Small structural changes of chromosome 8Human Genetics, 1977