DiGeorge Syndrome: Simultaneously Diagnosis of A Mother-Baby Pair With Great Clinical Variability
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Case Report

DiGeorge Syndrome: Simultaneously Diagnosis of A Mother-Baby Pair With Great Clinical Variability

Gazi Med J 2022;33(2):179-182 DOI: 10.12996/gmj.2022.40
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Abstract

We report a female infant with complete DiGeorge syndrome who has craniofacial and skeletal abnormalities, feeding problems, cardiac defect, hypocalcemia induced seizure, thymic aplasia, and severe combined immune deficiency. Her mother also had a partial type of disease and was diagnosed at the same time with her baby. FISH analysis of both mother and the infant revealed a deletion in 22q11.2. This family’s findings indicate that 22q11 deletion syndrome is a genetic condition with wide interfamilial and intrafamilial variability in clinical expression.

Keywords: Complete DiGeorge syndrome, clinical expression, severe combined immune deficiency, thymic aplasia