THE CRITICAL SEGMENT FOR THE LANGER-GIEDION SYNDROME - 8Q24.11-]Q24.12
- 1 January 1985
- journal article
- research article
- Vol. 28 (4) , 224-227
Abstract
An 18-year-old intellectually normal male with characteristic features of the Langer-Giedion syndrome is reported. High resolution chromosome analysis showed a small deletion in the region of bands 8q24.11 and 8q24.12 in addition to an apparently balanced de novo translocation (21;9) (q2;q13). This finding provides additional information on the minimum deleted segment required to produce the Langer-Giedion syndrome and may indicate that deletions of this size or smaller are not necessarily associated with mental retardation.This publication has 7 references indexed in Scilit:
- Familial tricho-rhino-phalangeal syndrome Type IIClinical Genetics, 2008
- Interstitial Deletion of 8qAmerican Journal of Diseases of Children, 1983
- Langer-Giedion syndrome with and without del 8q. Assignment of critical segment to 8q23Human Genetics, 1982
- Langer-Giedion syndrome and deletion of the long arm of chromosome 8Human Genetics, 1981
- INTERSTITIAL 3P DELETION IN A CHILD DUE TO PATERNAL PARACENTRIC INSERTED INVERSION1980
- Retinoblastoma with 13q- Chromosomal Deletion Associated with Maternal Paracentric Inversion of 13qScience, 1979
- Interstitial delection of the long arm of chromosome 8Human Genetics, 1979