Deletion of chromosome region 18q21.3--qter in a patient: clinical, endocrine and imaging abnormalities

Deletion of chromosome 18q (18q-) is a survivable autosomal abnormality, having an estimated incidence of one in 40,000 live births. Common features of affected individuals include developmental delay, growth retardation, hearing impairment, delayed myelination of the brain, and craniofacial dysmorphism. We describe herein a girl with psychomotor retardation and characteristic midface hypoplasia. The clinical, radioimaging, and cytogenetic findings as occur in 18q- are compared with a terminal deletion in the long arm of chromosome 18. We also monitored the effects of growth hormone treatment for changes in growth, and the patient's height velocity increased from 3.5 cm/yr to 7 cm/yr. Her nonverbal intelligence quotient (nIQ) increased from 30 to 48. Cognition of this patient is significantly improved. However, the brain MRI was not significantly improved after growth hormone treatments changes.