遺伝症候群と遺伝子治療のジャーナル
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概要

4q- Deletion Syndrome: Psychiatric Symptoms in a Rare Chromosomal Disorder

Maria Emília Pereira, Ricardo Caetano Silva, Ana Velosa and Bernardo Barahona-Corrêa

We present the case of an 18-year-old man with the karyotype 46, XY, del (4) (q21.1q21.3), and describe in detail the clinical findings, with emphasis on the psychiatric symptoms and their management. 4q- syndrome comprises all deletions of the long arm of chromosome 4. It consists of facial and digital dysmorphisms, skeletal and cardiac defects, growth retardation and learning difficulties. Our report contributes to the understanding of the natural history and management of this rare chromosomal disorder.