Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q.

this feature.' It appears that interstitial deletion of the long arm of chromosome 12 is able to mimic the phenotype of trisomy 18 to a considerable extent. To our knowledge, no similar case of interstitial deletion 12q has yet been reported, and recent text books do not provide any appropriate references.' 2 Therefore, it is not certain whether or not a constant karyotype/phenotype correlation exists. If this correlation does exist, then this type of interstitial deletion could be described as another example of 'pseudo-trisomy 18'. A further nosological aspect of this case is to add another example to an already lengthy list of syndromes which feature cleft lip and palate.2