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  • Title: Familial deletion of 22q11.2.
    Author: Rodríguez Criado G, Gruesomontero J, Delicado Navarro A.
    Journal: Genet Couns; 1999; 10(3):325-7. PubMed ID: 10546107.
    Abstract:
    We present a mother and her son, both carrying a deletion of chromosome 22q.11.2. They manifest clinical heterogeneity. The mother has schizophrenia, an IQ of 70. Tetralogy of Fallot, a hypernasal voice, but does not have the characteristic facies. Her son has mild psychomotor developmental delay. Tetralogy of Fallot and mild facial features characteristic of VCFS.
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