Abstract. A case report of two sisters with DiGeorge anomaly (deletion in chromosome 22q11) is presented. Their parents have psychiatric diagnoses – the mother was diagnosed with dwarfism and intellectual disability, and the father with alcohol dependence syndrome. The medical records indicate that the two sisters were born from the mother’s third and fourth pregnancies, as the two children had died before. One of them had congenital heart disease listed as the cause of death. Both sisters were diagnosed with intellectual disability after an evaluation by a child psychiatrist and psychologist. Patients with DiGeorge anomaly require follow-up by a multidisciplinary team.

Key words: DiGeorge anomaly, deletion in chromosome 22q11, neurocognitive disorders, multidisciplinary assessment

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