3q29 duplication syndrome (3q29dup) is a rare genomic disorder caused by a 1.6 Mb duplication (GRCh38 chr3:195,998,000-197,623,000). Case reports indicate the 3q29dup is likely to be pathogenic, but the full range of manifestations is not well understood. We used the 3q29 registry (https://3q29.com) to ascertain 31 individuals with 3q29dup, the largest cohort ever surveyed in a systematic way. For comparison, we ascertained 117 individuals with the reciprocal 3q29 deletion and 64 typically developing controls. We used a custom medical and demographic questionnaire to assess physical and developmental phenotypes, and two standardized instruments, the Social Responsiveness Scale and Child Behavior Checklist/Adult Behavior Checklist, to assess social disability. Participants with 3q29dup report a high rate of problems in the first year of life (80.6%), including feeding problems (55%), failure to gain weight (42%), hypotonia (39%), and respiratory distress (29%). In early childhood, learning problems (71.0%) and seizures (25.8%) are common. Additionally, the rate of self-reported autism spectrum disorder diagnoses (39%) is substantially elevated compared to the general population, suggesting that the 3q29 duplication may be an autism susceptibility locus. This is the most comprehensive description of 3q29dup to date. Our findings can be used to develop evidence-based strategies for early intervention and management of 3q29dup.

中文翻译：

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与3q29复制综合征相关的新表型：3q29注册表的结果。

3q29复制综合征（3q29dup）是一种罕见的基因组疾病，由1.6 Mb复制引起（GRCh38 chr3：195,998,000-197,623,000）。病例报告表明3q29dup很可能是致病的，但对所有表现形式的了解都不多。我们使用3q29注册表（https://3q29.com）来确定31位3q29dup个体，这是有系统地调查的最大队列。为了进行比较，我们确定了117个人中存在3q29互补缺失和64名通常发育中的对照。我们使用定制的医学和人口统计学问卷来评估身体和发育表型，并使用两种标准化工具社会反应量表和儿童行为清单/成人行为清单来评估社会残疾。参加3q29dup的参与者在生命的第一年报告了很高的问题发生率（80。6％），包括进食问题（55％），体重减轻（42％），肌张力低下（39％）和呼吸窘迫（29％）。在幼儿时期，学习困难（占71.0％）和癫痫发作（占25.8％）很常见。此外，与一般人群相比，自我报告的自闭症谱系障碍诊断率（39％）显着提高，这表明3q29重复可能是自闭症易感性基因座。这是3q29dup迄今为止最全面的描述。我们的发现可用于为3q29dup的早期干预和管理制定基于证据的策略。与一般人群相比，自我报告的自闭症谱系障碍诊断率（39％）显着提高，这表明3q29重复可能是自闭症易感性基因座。这是3q29dup迄今为止最全面的描述。我们的发现可用于为3q29dup的早期干预和管理制定基于证据的策略。与一般人群相比，自我报告的自闭症谱系障碍诊断率（39％）显着提高，这表明3q29重复可能是自闭症易感性基因座。这是3q29dup迄今为止最全面的描述。我们的发现可用于为3q29dup的早期干预和管理制定基于证据的策略。