22q11.2 非典型微重复伴“典型”表现和过度生长
Atypical 22q11.2 Microduplication with "Typical" Signs and Overgrowth.
机构信息
Department for Psychiatry and Psychotherapy, University of Rostock, Rostock, Germany,
Department for Psychiatry, Psychosomatics and Psychotherapy, University of Würzburg, Würzburg, Germany,
出版信息
Cytogenet Genome Res. 2020;160(11-12):659-663. doi: 10.1159/000512486. Epub 2021 Jan 20.
Abstract
The 22q11.2 microduplication syndrome shows variable phenotypes with reduced penetrance compared to the 22q11.2 deletion syndrome. We report a woman with overgrowth and macrocephaly, mild mental retardation, heart defect, kidney anomalies, and dysmorphic features. Array-CGH analysis revealed a 246-kb duplication at the 22q11.2 region. No additional clinically significant CNVs were found. The case resembles a previously published case also showing overgrowth and macrocephaly with an almost identical 22q11.2 duplication of 252 kb.
摘要
22q11.2 微重复综合征与 22q11.2 缺失综合征相比，表现出可变的表型和降低的外显率。我们报告了一例女性患者，表现为过度生长和大头畸形、轻度智力障碍、心脏缺陷、肾脏异常和畸形特征。阵列-CGH 分析显示 22q11.2 区域有 246kb 的重复。未发现其他具有临床意义的 CNVs。该病例与之前发表的一例病例相似，也表现为过度生长和大头畸形，22q11.2 重复约 252kb。
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