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


Dokuzboy R. S. , Sari F. N. , Beser E., ÇAĞDAŞ AYVAZ D. N. , Dizdar E. A.

GAZI MEDICAL JOURNAL, vol.33, no.2, pp.179-182, 2022 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 2
  • Publication Date: 2022
  • Doi Number: 10.12996/gmj.2022.40
  • Journal Name: GAZI MEDICAL JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier
  • Page Numbers: pp.179-182
  • Keywords: Complete DiGeorge syndrome, clinical expression, severe combined immune deficiency, thymic aplasia, 22Q11.2 DELETION SYNDROME, FEATURES, MANIFESTATION, HYPOCALCEMIA, ANOMALIES, SPECTRUM
  • Hacettepe University Affiliated: Yes

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.