[Phenotypic variability of the 1q21.1 microdeletion syndrome in members of the same family: relevance of detection of neuropsychiatric disorders for diagnosis of genetic syndromes].

Abstract excerpt

INTRODUCTION: 1q21.1 microdeletion syndrome is a caused by a recurrent deletion of the 1q21.1 copy-number variant, which spans 800 kb and includes at least seven genes. It is associated with a variable phenotype. Neuropsychiatric abnormalities have been previously described in many of the previously reported cases, but its true prevalence is unknown. AIM: To illustrate the phenotypic variability in 1q21.1...

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