Related Experiment Videos
DiGeorge syndrome and partial monosomy 10p: case report and review
S Schuffenhauer1, H Seidel, H Oechsler
1Abteilung für Pädiatrische Genetik der Kinderpoliklinik, Ludwig-Maximilians-Universität München, Germany.
Annales De Genetique
|January 1, 1995
Summary
DiGeorge syndrome (DGS) can be caused by chromosomal abnormalities beyond the typical 22q11 deletion. This case highlights a rare instance of DGS associated with a 10p deletion, emphasizing the need for comprehensive genetic evaluation.
Area of Science:
- Genetics
- Pediatrics
- Clinical Medicine
Background:
- DiGeorge syndrome (DGS) is primarily linked to 22q11.2 deletions.
- A small percentage of DGS patients exhibit other chromosomal anomalies, including 10p deletions.
Observation:
- A 20-month-old girl diagnosed with DGS exhibited a complex chromosomal rearrangement involving chromosome 10.
- She presented with monosomy 10p13-pter and trisomy 10q26-qter, resulting from a maternal inversion.
- Her phenotype included characteristic features of del(10p) syndrome and typical DGS manifestations.
Findings:
- The patient displayed typical del(10p) syndrome features such as mental retardation, craniofacial anomalies, and cardiac defects.
- DGS was diagnosed early due to cardiac defects, hypoplastic thymus, T-cell dysfunction, hypocalcemia, and hypoparathyroidism.
- Fluorescence in situ hybridization (FISH) analysis excluded the common 22q11 deletion, confirming the diagnosis was linked to the 10p abnormality.
Implications:
- This case adds to the limited number of reported DGS patients with 10p deletions, underscoring the genetic heterogeneity of DGS.
- It emphasizes the importance of comprehensive genetic evaluation in DGS cases where the 22q11 deletion is absent.
- Understanding these rare chromosomal abnormalities is crucial for accurate diagnosis, genetic counseling, and management of DiGeorge syndrome.