摘要
目的对1例生长发育迟缓、智力障碍患儿及其家系成员进行细胞和分子遗传学分析，寻找其致病原因。方法应用常规外周血G显带对患儿及父母进行核型分析，进一步应用多重连接依赖探针扩增（multiplex ligation dependent probe amplification，MLPA）技术进行验证。结果G显带染色体分析显示患儿核型可能为46，XY，der（9）t（9；14）（q13；q11．2），父亲核型可能为46，XY，t（9；14）（q13；q11．2），患儿母亲核型未见异常，MLPA验证与核型分析预期结论一致。结论患儿衍生的9号染色体来源其发生了平衡易位的父亲，患儿的异常表型归因于9p11．2-p24．3重复。细胞遗传学联合MLPA等技术有助于准确鉴别异常染色体来源，为临床诊疗提供准确的遗传学依据。
Objective To identify the genetic cause for a case with growth retardation and mental retardation. Methods After conventional peripheral blood karyotyping with G-banding, the abnormal chromosome was identified as suspicious 9p duplication by multiplex ligation dependent probe amplification （MLPA） . Results The proband＇s karyotype was suspicious 46,XY,der（9）t（9;14）（q13;q11.2）, then the abnormal chromosome 9 was identified as 9p duplication with MLPA. The 9p duplication occurs because of a balanced chromosomal rearrangement between two chromosomes of 9 and 14 in the proband＇ s father. Conclusion 9pll. 2-p24.3 duplication is the cause of abnormal phenotypes in the child patient. Cytogenetic methods combined with MLPA can efficiently identify abnormal chromosomes and provide accurate results for clinical diagnosis and treatment.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2015年第2期237-239,共3页
Chinese Journal of Medical Genetics
关键词
9p三体综合征
核型分析
多重连接依赖探针扩增
Duplication 9p syndrome
Karyotyping
Multiplex ligation dependent probeamplification
