两例合并X染色体异常的罕见疾病患儿的遗传学分析  

Two cases of rare diseases with abnormalities of X chromosome

作　　者：吴庆华[1] 麻希洋 孔祥东[1] 史惠蓉[2] 陈争光[3] 焦智慧[1] 刘丽娜 江淼[1] Wu Qinghua;Ma Xiyang;Kong Xiangdong;Shi Huirong;Chen Zhengguang;Jiao Zhihui;Liu Lina;Jiang Miao(Center of Genetics and Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China;Department of Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China;Department of Ultrasonography, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China)

机构地区：[1]郑州大学第一附属医院遗传与产前诊断中心,450052 [2]郑州大学第一附属医院妇科,450052 [3]郑州大学第一附属医院超声科,450052

出　　处：《中华医学遗传学杂志》2019年第2期151-153,共3页Chinese Journal of Medical Genetics

摘　　要：目的 探讨2例合并X染色体异常的罕见遗传病患儿的临床特征及诊断。 方法 应用多重连接探针扩增和外周血染色体核型分析对1例身材矮小的进行性肌营养不良女性患儿进行基因诊断和核型分析,对另1例阴茎短小的患儿进行核型分析,并对其SRY和AZF基因进行扩增和分析。 结果 例1的核型为46,X,i(Xq),结合临床检查将其确诊为特纳综合征;例2表型为男性,小阴茎,核型分析示45,X,基因检测提示其SRY为阳性,而AZF基因缺失。 结论 上述病例均可能与X染色体异常有关,遗传学检查将有助于早期诊断和治疗。Objective To explore the clinical features and genetic diagnosis of two cases with rare diseases and X chromosome abnormalities.Methods Multiple ligation-dependent probe amplification (MLPA) and karyotype analysis were carried out on an 8-year-old girl who was diagnosed with Duchenne muscular dystrophy. Karyotype analysis and PCR assay for SRY and AZF genes were carried out for a 2-month-old male infant with short penis.Results The girl, who featured short stature and cubitus valgus, was diagnosed as Turner syndrome with a karyotype of 46, X, i(Xq). The male infant was detected with a karyotype of 45, X, with presence of SRY gene but absence of AZF gene.Conclusion Both cases may be associated with abnormalities of X chromosome. Genetic testing can facilitate early diagnosis and clinical intervention for such patients.

关 键 词：进行性肌营养不良 性发育异常 X染色体异常 

分 类 号：R725.9[医药卫生—儿科] R440[医药卫生—临床医学]