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...

This case report concerns a 16-year-old girl with a 9.92 Mb, heterozygous interstitial chromosome deletion at 7q33-q35, identified using array comparative genomic hybridization. The patient has dysmorphic facial features, intellectual disability, recurrent infections, self-injurious behavior, obesity, and recent onset of hemihypertrophy. This patient has overlapping features with previously rep...