5p缺失综合征家系临床和细胞遗传学研究及产前诊断  

Clinical and cytogenetic analysis of a family of 5p deletion syndrome and prenatal diagnosis of an insertion carrier

作　　者：董兴盛[1] 张亚男[1,2] 方群[3] 李洵桦[4] 杨凌云[1,5] 宋新明[1] 陈争[1] 

机构地区：[1]中山大学中山医学院医学遗传教研室,广州510080 [2]中山大学附属第三医院不育与性医学科 [3]中山大学附属第一医院胎儿医学中心 [4]中山大学附属第一医院神经内科 [5]浙江大学医学院附属邵逸夫医院妇产科生殖中心

出　　处：《中国神经精神疾病杂志》2010年第10期581-584,共4页Chinese Journal of Nervous and Mental Diseases

基　　金：国家自然科学基金主任基金(编号:30640028);国家自然科学基金(编号:30971601);广东省自然科学基金(编号:9151008901000089)资助

摘　　要：目的探讨5p缺失综合征家系患者的临床特点和异常染色体的来源,对平衡型染色体异常携带者进行产前诊断的方法和意义。方法对1例5p缺失家系的患儿及父母进行细胞遗传学检查,并对先证者母亲妊娠后进行了3次产前诊断。结果先证者核型为46,XY,del(5)(p13p15),母亲为新发生的染色体异常携带者,对其3次产前诊断准确地诊断出患病胎儿和插入携带者胎儿。结论本家系中患儿为5p缺失综合征,其5p缺失来源于母亲染色体的平衡插入,对平衡型染色体异常携带者进行产前诊断能有效地避免新患者出生。Objective To investigate the clinical features of 5p deletion syndrome and the origin of the 5p deletion,evaluate prenatal diagnosis of carriers of balance chromosomal abnormality.Methods The chromosomal karyotypes were analyzed in the family members and prenatal diagnosis were performed on the proband＇s mother three times.Results The karyotype of proband was 46,XY,del（5）（p13p15）.The mother was a chromosomal aberration carrier and the prenatal diagnosis performed on the mother could reliably identify the patient and the insertion carrier.Conclusions The patients suffer from 5p deletion syndrome which is derived from a maternal insertion.Prenatal diagnosis performed in the balanced chromosomal structural aberration carriers can effectively avoid the birth of affected child.

关 键 词：5p缺失综合征 细胞遗传学 产前诊断 

分 类 号：R596.1[医药卫生—内科学]