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Microdeletion 22q11 in complex cardiovascular malformations
Y Mehraein1, C F Wippermann, I Michel-Behnke
1Abteilung für Klinische Genetik der Philipps-Universität Marburg, Germany.
Human Genetics
|April 1, 1997
Summary
A 22q11 microdeletion is linked to complex cardiovascular defects, often overlooked. These deletions are syndromic, presenting with extracardiac features like facial dysmorphy and hypocalcemia.
Area of Science:
- Genetics
- Cardiology
- Pediatrics
Background:
- 22q11 microdeletion is associated with DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes.
- These conditions are now recognized as part of the CATCH-22 microdeletion complex.
- CATCH-22 encompasses cardiac defects, abnormal facies, thymic/T-cell issues, cleft palate, and hypoparathyroidism/hypocalcemia.
Purpose of the Study:
- To investigate complex cardiovascular defects (CCVD) in patients with suspected 22q11 microdeletion.
- To screen for 22q11 microdeletions and associated CATCH features in CCVD patients.
- To determine the syndromic nature of CCVDs linked to 22q11 microdeletions.
Main Methods:
- Fluorescence in situ hybridization (FISH) using the D22S75 DNA probe was employed.
- 40 patients with CCVD were screened for 22q11 microdeletion.
- Patients were assessed for characteristic CATCH features.
Main Results:
- Monosomy 22q11 was detected in 22.5% (9/40) of patients.
- Familial transmission was confirmed in two cases.
- All 13 patients with 22q11 deletion exhibited at least one additional CATCH feature, most commonly facial dysmorphy (92%), hypocalcemia (62%), and thymic hypoplasia (41%).
Conclusions:
- Seemingly isolated CCVDs associated with 22q11 microdeletion are likely syndromal.
- Extracardiac features of 22q11 microdeletion syndrome are frequently present but may be overlooked.
- These findings challenge the notion of CCVDs as a distinct subgroup within the CATCH-22 complex.