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Indexed/Abstracted in: CAB, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,532
Online ISSN 1827-1715
Tucciarone L., Tomassini A., Colasanti A., Sabbi T., Stella P.
A case of del(3) p25-pter syndrome in a four-year-old boy whose clinical manifestations were followed and studied since birth, is described. Diagnosis was made by means of karyotype analysis. The parental chromosomes were normal. So far, only about twenty cases of this syndrome have been described in living individuals. Comparison with previously reported cases confirms that the phenotype exhibits an identifiable pattern of malformation, consisting of pre- and postnatal growth delay, typical craniofacial dysmorphisms and limb abnormalities. No severe visceral anomalies were detected in this patient. Nevertheless, the follow-up revealed a progressive decay of the psychomotor and neurosensory functions.