GAZI MEDICAL JOURNAL, vol.33, no.2, pp.179-182, 2022 (ESCI)
Article / Article
GAZI MEDICAL JOURNAL
Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier
Complete DiGeorge syndrome, clinical expression, severe combined immune deficiency, thymic aplasia, 22Q11.2 DELETION SYNDROME, FEATURES, MANIFESTATION, HYPOCALCEMIA, ANOMALIES, SPECTRUM
Hacettepe University Affiliated:
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.