Abstract
Chromosome 22q11 deletion (CATCH 22 syndrome or velocardiofacial syndrome) is one
of the most frequent chromosomal syndromes. Neurological features other than cognitive
disorders are probably the least-described part of the expanding phenotype of the
22q11 deletion. We report the neurological features of three unrelated children with
a de novo deletion: one patient with an autistic disorder, a second patient with hypocalcaemic
neonatal seizures and unusual persistent epileptic focus at electroencephalographic
follow-up, and a third patient with atypical absence epilepsy. These observations
enlarge the clinical and neurological spectrum of the 22q11 deletion. Awareness of
such cases is necessary, and a diagnosis of the 22q11 deletion should be suspected
in children with common neurological features associated with severe or mild dysmorphism.
Diagnosis of the 22q11 deletion should be confirmed by fluorescence in situ hybridization
analysis associated with standard chromosomal analysis.
Keywords
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Article info
Publication history
Accepted:
August 17,
2001
Received in revised form:
July 2,
2001
Received:
November 30,
2000
Identification
Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
