Batanian Jacqueline R, Braddock Stephen R, Christensen Katherine, Knutsen Alan P
Division of Molecular Cytogenetics Laboratory, Saint Louis University Medical Center, St. Louis, Missouri; Department of Pediatrics, Saint Louis University Medical Center, St. Louis, Missouri.
Am J Med Genet A. 2014 Feb;164A(2):535-41. doi: 10.1002/ajmg.a.36305. Epub 2013 Dec 5.
We report for the first time on a 3-year-old boy with paternally inherited 212.85 kb-16p11.2 and 7.8 Mb-20p12.2-11.23 interstitial microduplications associated with having congenital cardiac defect, dysmorphic facial features, and combined T-, B-, and NK cell immunodeficiency. In addition the 7.8 Mb-20p12.2-11.23 microduplication is unique showing novel breakpoints among all partial trisomy/duplication 20p reported to date, narrowing down the critical region for trisomy 20p syndrome.
我们首次报告了一名3岁男孩，其从父亲遗传了212.85 kb的16p11.2和7.8 Mb的20p12.2 - 11.23间质性微重复，伴有先天性心脏缺陷、面部畸形特征以及T细胞、B细胞和自然杀伤细胞联合免疫缺陷。此外，7.8 Mb的20p12.2 - 11.23微重复是独特的，在迄今为止报道的所有20p部分三体/重复病例中显示出新的断点，从而缩小了20p三体综合征的关键区域。
