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  • Title: Langer-Giedion syndrome with interstitial 8q-deletion.
    Author: Zabel BU, Baumann WA.
    Journal: Am J Med Genet; 1982 Mar; 11(3):353-8. PubMed ID: 7081298.
    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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