家族性t（5；11）细胞遗传学分析

目的染色体平衡易位是导致妊娠妇女习惯性流产、早产、新生儿早天的重要原因之一。通过对一连续３代出现ｔ（５；１１）家系的分析，为习惯性流产病因病理学提供新的资料。方法全血微量培养法培养外周血淋巴细胞，染色体行Ｇ、Ｃ式显带分析，调查研究先证者家系系谱。结果先证者２次培养、制作，全部核型均为４６，ｘｘ，ｔ（５；１１）（ｑ１３；ｑ２３）（５ｑｔｅｒ→５ｑ１３∷１１ｑ２３→１１ｐｔｅｒ；５ｐｔｅｒ→５ｑ１３∷１１ｑ２３→１１ｑｔｅｒ），先证者父亲、祖父的全部核型均携带有与先证者相同之衍生染色体。结论先证者及其父亲、祖父均为ｔ（５；１１）（ｑ１３；ｑ２３），十分罕见。由于携带者遗传物质丢失较少，故其表型及智力不受影响，但其生育方面的影响是明显的。先证者的表型与染色体无直接关系，唯一可疑的致畸因素是其母孕早期成病性地连续服用果导片。

An analysis of cytogenetics in family tree with t(5;11)

Objective Chromosome balance translocation is one of the main causes resulting in habitualabortion and premature labor in pregnantwomen, death in newborn. Analyzing family treewith t (5, 11) for continuous threegenerations, we provided new data for etiologyand pathology of habitual abortion.Methods Peripheral blood lymphocytes werecultured with whole blood microdeterminationculture method. Analysis of chomosome bandingG, C was performed, and the pedigree of thefamily tree of proband was investigated.Results Culture and preparation of proband'sexamination twice showed that total karyotytedswere 46, xx, t (5, 11) (q13, q23) (5 qter→ 5q13∷ 11p23→11 pter; 5pter→5q13f∷ 11q23→ 11qter), the total karyotypes of proband's fatherand grandfather carried derivative chromosome assame as preband's.Conclusion It's rather rare that the pedigreewith proband's tether and grandfather are t (5;11) (q 13, q23). Because of less loss of geneticmaterial, phenotypes and intelligence of carrierhaven't affected obviously, but the affect of balanced translocation in chromsome on reproduction is obvious. The proband's phenotype is notdirectly related to abnormal chromsome, only asuspected teratogenic facter is phenolphthaleinwhich was took orally by her mother in her earlypregnancy.