Familial deletion of 22q11.2

G Rodríguez Criado¹, J Gruesomontero, A Delicado Navarro

¹Unidad de Dismorfología, Hospital Infantil Virgen del Rocío, Sevilla, Spain.

Genetic Counseling (Geneva, Switzerland)

|November 5, 1999

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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