M. E. Pereira, Ricardo Caetano Silva, A. Velosa, B. Barahona-Corrêa
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引用次数: 0
摘要
我们提出了一个18岁的男性核型46,XY, del (4) (q21.1q21.3)的病例,并详细描述了临床表现,重点是精神症状及其管理。4q-综合征包括4号染色体长臂的所有缺失。它包括面部和数字畸形,骨骼和心脏缺陷,生长迟缓和学习困难。我们的报告有助于了解这种罕见的染色体疾病的自然历史和管理。
4q- Deletion Syndrome: Psychiatric Symptoms in a Rare Chromosomal Disorder
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.