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

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.