[Subtelomeric aberration as a cause of severe somatic and psychomotor retardation in a child with dysmorphic features and CNS defects].

Abstract excerpt

Subtelomeric chromosome rearrangements are a significant cause of severe somatic and psychomotor retardation. Their incidence is estimated as 2.1/10000 liveborns and about 30-50% of the reported aberrations were familial. They result in a wide spectrum of clinical signs and most of reported cases are non-repeatable. Clinical verification of mentally retarded patients suspected of subtelomeric rearrangements...

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