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Related Experiment Videos

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
PubMed
Summary
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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.

Related Experiment Videos

  • 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.