BIOGENET, Medical and Forensic Genetics Laboratory, 87100 Cosenza, Italy.
Department of Biology, Ecology and Earth Sciences, University of Calabria, 87036 Rende, Italy.
Genes (Basel). 2023 Jun 19;14(6):1292. doi: 10.3390/genes14061292.
Partial duplication of the short arm of chromosome 7 is a rare chromosome rearrangement. The phenotype spectrum associated with this rearrangement is extremely variable even if in the last decade the use of high-resolution microarray technology for the investigation of patients carrying this rearrangement allowed for the identification of the 7p22.1 sub-band causative of this phenotype and to recognize the corresponding 7p22.1 microduplication syndrome. We report two unrelated patients that carry a microduplication involving the 7.22.2 sub-band. Unlike 7p22.1 microduplication carriers, both patients only show a neurodevelopmental disorder without malformations. We better characterized the clinical pictures of these two patients providing insight into the clinical phenotype associated with the microduplication of the 7p22.2 sub-band and support for a possible role of this sub-band in the 7p22 microduplication syndrome.
7 号染色体短臂部分重复是一种罕见的染色体重排。即使在过去十年中，使用高分辨率微阵列技术来研究携带这种重排的患者，确定了导致这种表型的 7p22.1 亚带，并识别了相应的 7p22.1 微重复综合征，但与这种重排相关的表型谱仍然极其多样。我们报告了两个无关的患者，他们携带涉及 7.22.2 亚带的微重复。与 7p22.1 微重复携带者不同，这两个患者仅表现出神经发育障碍而没有畸形。我们更好地描述了这两个患者的临床图片，深入了解了 7p22.2 亚带微重复相关的临床表型，并支持该亚带在 7p22 微重复综合征中的可能作用。
