Case Reports
doi: 10.1002/ajmg.1320110312.
Langer-Giedion syndrome with interstitial 8q-deletion
- PMID: 7081298
- DOI: 10.1002/ajmg.1320110312
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Case Reports
Langer-Giedion syndrome with interstitial 8q-deletion
Am J Med Genet.
1982 Mar.
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.
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