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

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.