Familial deletion of 22q11.2. |
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| Authors: | G Rodríguez Criado J Gruesomontero A Delicado Navarro |
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| Institution: | Unidad de Dismorfología, Hospital Infantil Virgen del Rocío, Sevilla, Spain. |
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| 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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