Langer-Giedion syndrome with interstitial 8q-deletion
- 1 March 1982
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 11 (3) , 353-358
- https://doi.org/10.1002/ajmg.1320110312
Abstract
We describe a 12-year-old girl with Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) who also had vertebral malformations. Chromosome analysis identified an interstitial del(8q): 46,XX,del(8)(pter leads to q22::q234 leads to qter) as a cause of this syndrome.Keywords
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