Familial deletion of 22q11.2.
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.
Rodríguez Criado
G
G
Unidad de Dismorfología, Hospital Infantil Virgen del Rocío, Sevilla, Spain.
Gruesomontero
J
J
Delicado Navarro
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D019066:Facies; D001068:Feeding and Eating Disorders / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D012559:Schizophrenia / Q000235:genetics*; D013771:Tetralogy of Fallot / Q000235:genetics*; D014681:Velopharyngeal Insufficiency / Q000235:genetics