Netto Vitor Scalone, Bellincanta Gabriel, Neto Guido de Paula Colares, de Araujo Evangelista Nara Michelle, Figueiredo Carolina Costa, Salmona Patricia, Tonetto-Fernandes Vânia de Fátima
Faculty of Medicine, Centro Universitário São Camilo, São Paulo, Brasil.
Department of Pediatric Endocrinology, Hospital Infantil Darcy Vargas, São Paulo, São Paulo, Brasil.
Endocrinol Diabetes Metab Case Rep. 2022 Feb 1;2022. doi: 10.1530/EDM-20-0197.
We describe a rare case of a girl with an initial diagnostic hypothesis of chromosome 8 trisomy based on clinical findings and karyotyping, which identified a structural change in the short arm of chromosome 8 (46,XX,add(8)(p23)). At the age of 7, she developed type 1 diabetes mellitus and started insulin therapy with multiple daily doses, and then she started to use a continuous insulin infusion system (pump) at 10 years of age. At the age of 12, she underwent a molecular study that identified an unbalanced translocation between the short arms of chromosomes 6 and 8 - 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-).
Patients with an unbalanced translocation between the short arms of chromosomes 6 and 8 - 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-) may present syndromic features suggestive of chromosome 8 trisomy. Main characteristics are a prominent forehead, ocular and breast hypertelorism, ocular, external ear and palate abnormalities, a short neck, heart defects, and developmental delay. Patients with 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-) may present autoimmune type 1 diabetes mellitus. Karyotyping is an essential tool for the diagnosis of chromosomal changes, but it has some limitations. Multiplex ligation-dependent probe amplification, array-single nucleotide polymorphism and fluorescence in situ hybridization can help diagnose genetic syndromes in patients with atypical evolution.
我们描述了一个罕见病例，一名女孩基于临床发现和核型分析，最初的诊断假设为8号染色体三体，该分析确定了8号染色体短臂的结构变化（46,XX,add(8)(p23)）。7岁时，她患了1型糖尿病并开始每日多次注射胰岛素治疗，10岁时开始使用持续皮下胰岛素输注系统（胰岛素泵）。12岁时，她接受了一项分子研究，结果发现6号和8号染色体短臂之间存在不平衡易位——46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-)。
6号和8号染色体短臂之间存在不平衡易位——46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-)的患者可能表现出提示8号染色体三体的综合征特征。主要特征包括前额突出、眼距和乳距增宽、眼部、外耳和腭部异常、颈部短、心脏缺陷和发育迟缓。46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-)的患者可能会患自身免疫性1型糖尿病。核型分析是诊断染色体变化的重要工具，但有一定局限性。多重连接依赖探针扩增、基因芯片单核苷酸多态性分析和荧光原位杂交有助于诊断病情演变不典型患者的遗传综合征。
