Department for Psychiatry and Psychotherapy, University of Rostock, Rostock, Germany,
Department for Psychiatry, Psychosomatics and Psychotherapy, University of Würzburg, Würzburg, Germany,
Cytogenet Genome Res. 2020;160(11-12):659-663. doi: 10.1159/000512486. Epub 2021 Jan 20.
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.
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。
