【摘要】 目的探讨13号环状染色体综合征的进展。方法对1例13号环状染色体综合征患儿的症状、体征和影像学检查进行分析,应用染色体常规G显带和C显带技术进行分析,并通过文献复习对13号环状染色体综合征患儿例进行回顾分析。结果本例患儿智力及语言发育落后、生长迟缓;小头畸形、内眦赘皮、眼距宽、腭弓高尖、颈短、耳位低、左手通贯掌;头颅CT、MRI未见异常,心脏彩超、腹部B超均未见异常;患儿核型为45,XX,-13/46,XX,r(13;13)(13;13q21.2→32);环状染色体中的1条只保留了q21.2→32片断。患儿双亲核型正常。结论本例患儿核型是1种少见的13号环状嵌合体;13号环状染色体综合征临床表型多样,与断裂点之间的关系仍不明确;13号环状染色体长臂缺失可分为4类;新着丝粒在有丝分裂和减数分裂过程中起重要作用。更多还原

【Abstract】 Objective To explore the research progress of ring chromosome 13 syndrome.Methods Clinical symptoms and signs were documented from a female patient and image studies were conducted. Karyotyping analysis was carried out with G banding and C banding for the patient and her parents.Results The patient presented with mental, language and growth retardation. The head CT and MRI scan, as well as abdominal and cardiac ultrasonography were normal. The patient′s karyotype was 45, XX, -13/46, XX, r (13; 13), a mosaic of one normal chromosome 13 and the other chromosome 13 with band q21.2→32 reminded and formed a ring. Karyotypes of her patient′s were all normal.Conclusions The patient′s karyotype was a rare ring mosaicism of 13 chromosome. Clinical manifestation was diverse and the relationship between phenotype and the breakpoint on chromosome 13 was still vague. Deletion of 13q can be classified into 4 categories. Neocentromere plays a very important role in mitosis and meiosis.更多还原