Scholarlink

<p>The deletion syndrome 22q11.2 is one of the most frequent genetic syndromes in humans, with a&#xa0;prevalence of 1:2500 [<CitationRef CitationID="CR1">1</CitationRef>]. The syndrome is particularly relevant for neurology, psychiatry and child and adolescent psychiatry due to a&#xa0;massive genetic predisposition to neuropsychiatric disorders that has been proven in recent years. Somatic symptoms are highly variable and can be diverse. Congenital heart defects, otorhinolaryngologic (ENT) abnormalities, parathyroid dysfunction and orthopedic abnormalities are particularly frequent and typical. In addition, many affected individuals suffer from susceptibility to infections. Almost all affected children show developmental disorders.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Neue interdisziplinäre S3-Leitlinie zum Deletionssyndrom 22q11.2, einer für neuropsychiatrische Morbidität prädisponierenden genetischen Erkrankung

  • 期刊论文

  • 发表日期：

    2026年5月20日

查看全文
  • Franziska Radtke,
  • Carina Sauter

摘要

The deletion syndrome 22q11.2 is one of the most frequent genetic syndromes in humans, with a prevalence of 1:2500 [1]. The syndrome is particularly relevant for neurology, psychiatry and child and adolescent psychiatry due to a massive genetic predisposition to neuropsychiatric disorders that has been proven in recent years. Somatic symptoms are highly variable and can be diverse. Congenital heart defects, otorhinolaryngologic (ENT) abnormalities, parathyroid dysfunction and orthopedic abnormalities are particularly frequent and typical. In addition, many affected individuals suffer from susceptibility to infections. Almost all affected children show developmental disorders.